Archive for the ‘Gene Therapy Doctor’ Category

The promise of gene therapy looms large for families dealing with rare, genetic disorders. Such treatments offer the possibility of one-time cures.

But families and researchers worry such therapies will remain out of reach.

Collectively, about 350 million people worldwide suffer from rare diseases, most of which are genetic. But each of the 7,000 individual disorders affects perhaps a few in a million people or less. So theres little commercial incentive to develop or bring to market these one-time therapies to fix faulty genes or replace them with healthy ones.

The Associated Press examined what this means for families, scientists and the nascent field of gene therapy.

Here are key takeaways from AP's report.

Families are frustrated, and some try to raise their own funds.

Camden Alderman was diagnosed as a baby with a rare disease called Wiskott-Aldrich syndrome, which is caused by a mutated gene on the X chromosome. It primarily affects boys up to 10 out of every million and can cause frequent infections, eczema and excessive bleeding.

When he was a toddler, doctors removed his spleen because of uncontrolled bleeding. As a young boy, he wound up in the hospital many times and was told he couldnt play baseball.

His mother Robin Alderman recalls one doctor saying: Basically, your sons only chance at a cure is going to be gene therapy.

He also told her researchers werent then accepting U.S. residents into a clinical trial for the treatment, which just kind of broke my heart, she said. There's still no clinical trial he can join, and London-based Orchard Therapeutics stopped investing in an experimental treatment for the condition in 2022.

Lacey Hendersons daughter, 5-year-old Estella, has alternating hemiplegia of childhood, a neurological condition that affects 300 people in the U.S. Estella is cognitively delayed, has limited use of her hands and suffers episodes that temporarily paralyze part or all of her body, Henderson said. Medications can curb symptoms, but theres no cure.

Her Iowa family raises money through a GoFundMe and a website to develop a gene therapy. Theyve brought in around $200,000.

We have three different projects with various researchers, Henderson said. But the problem is everything is underfunded.

Financial disincentives can plague the process.

The amount of work it takes to get from a lab to human testing and through the drug approval process is incredibly expensive, said Dr. Donald Kohn, professor of microbiology, immunology and molecular genetics at the University of California, Los Angeles.

In the last couple of years, he said, investment in gene therapy has largely dried up.

If you have to spend $20 million or $30 million to get approval and you have five or 10 patients a year, its hard to get a return on investment, Kohn said. So we have successful, safe therapies, but its more the financial, economic elements that are limiting them from becoming approved drugs."

Ultimately, most biotechnology companies become public and must focus on shareholder profit, said Francois Vigneault, CEO of the Seattle biotech Shape Therapeutics.

The board is the thing that gets in the way; theyre trying to maximize gain, said Vigneault, whose company is privately held. Thats just greed. Thats just incentive misaligned between corporate company structure and what we should do thats good for the world.

Scientists, nonprofits and patient groups are working toward solutions.

In the U.S., for example, The Bespoke Gene Therapy Consortium was organized by the Foundation for the National Institutes of Health and includes the FDA, various NIH institutes and several drug companies and nonprofits. Its goals include supporting a handful of clinical trials and streamlining regulatory processes.

Researchers are trying to address the problem scientifically. Dr. Anna Greka said the Broad Institute of MIT and Harvard has launched an effort to look at the commonalities behind various conditions or nodes, which can be likened to branches meeting at a tree trunk. Fixing the nodes with gene therapies or other treatments, rather than particular misspellings in DNA responsible for one disorder, could potentially address multiple diseases simultaneously.

What this does is it increases the number of patients who can benefit from the therapy, said Greka, a Broad member.

Still, scientists say these efforts dont negate the larger financial quandary surrounding therapies for rare diseases, and it may be a while before such gene therapies are available to patients worldwide.

This is a massive challenge, and Im not entirely sure were going to be able to overcome it, said Claire Booth of University College London. But we have to give it a go because weve spent decades and millions making these transformative treatments. And if we dont try, then it feels like the end of an era.

___

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institutes Science and Educational Media Group. The AP is solely responsible for all content.

Laura Ungar, The Associated Press

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Takeaways from AP's report on access to gene therapies for rare diseases - Yahoo News Canada

NINA MOINI: The Minneapolis Saint Paul International Film Festival is currently under way. And tonight, a documentary will premiere called "Sequencing Hope." The film is directed by Lindsey Seavert and Maribeth Romslo. It follows an Alabama family who came to Minnesota to get their young daughter life-saving gene therapy for a rare disease. Let's listen to a clip from the trailer.

CELIA GRACE HAMLETT: Can you hold my hand?

[CHUCKLES]

They give me the medicine.

SUBJECT 1: There is lots of other gene therapy research on the horizon.

SUBJECT 2: That's got far-reaching consequences to move medicine forward.

SUBJECT 3: In my heart, I feel that the good Lord has something in store for Celia Grace.

SUBJECT 4: We just pray, Lord, for a miracle. We pray for a healing for Celia Grace.

SUBJECT 5: You know, when it comes to your kids, you're going to do whatever it takes to protect them.

SUBJECT 6: If it saves one child, then I feel like we have accomplished something.

NINA MOINI: Celia Grace Hamlett was four-years-old when she came to M Health Fairview Masonic Children's Hospital in 2021 and became the first person in the US to undergo the experimental gene therapy. Her family's in town for the film's premiere tonight and Celia Grace's dad, Gary, joins us now along with their doctor, Doctor Paul Orchard. Thank you both for being here.

GARY HAMLETT: Thank you.

PAUL ORCHARD: Thank you, Nina.

NINA MOINI: Yeah, and Gary, let me start with you if I might. Tell us about your daughter, Celia Grace. She's seven-years-old now and I understand she was diagnosed with this rare and often fatal genetic disorder, MLD, when she was diagnosed at three-years-old. What were her options at that point?

GARY HAMLETT: Well, at that point had one or had two options. One was bone marrow transplant or the other was gene therapy that was only being done in Milan, Italy.

NINA MOINI: Wow. Doctor Orchard, can you tell us all what MLD is?

PAUL ORCHARD: Certainly. Appreciate the opportunity to speak with you today. So metachromatic leukodystrophy is a rare inherited disorder. It's what we call a lysosomal disease. The lysosome is an organelle within cells that help break down materials that the cell is attempting to get rid of.

And there's a number of enzymes that are present in the lysosome that help accomplish that. Arylsulfatase A. is one of those. And in this circumstance, if you are unlucky enough to receive a mutation within the arylsulfatase gene from both mom and from dad, then you're affected with the disease.

But both parents who have one normal copy of the gene are absolutely fine. There's nothing to suggest that they have any sort of problem, but again, if you receive an abnormal copy from both parents then you see the disease. And in this situation, it's primarily a neurologic disorder. It occurs in kids as young as one or so in terms of manifestations of the disease, but it's progressive and lethal if there's no therapy.

NINA MOINI: Wow, that's just so much to take in, Gary. And you know, you mentioned having to maybe think about treatment over in Milan. How did you hear about the treatment for MLD that was right here in Minnesota?

GARY HAMLETT: Our doctor neurologist in Alabama, Doctor Matt, is the one that contacted us and said, what would y'all think if I told y'all y'all's daughter was going to make history books? At that point we said, what do you mean? And she said, well, your daughter may be the first child in the United States to receive gene therapy for MLD and it will be done at the Masonic Children's Hospital in Minneapolis under the care of Doctor Paul Orchard.

NINA MOINI: And then what did you think? I mean, were you going to have to pay for that?

GARY HAMLETT: Yes. At that point we didn't really care what it cost us being able to save our daughter's life. So our community started doing fundraisers to try to raise money to pay for this.

NINA MOINI: Wow, yeah. Doctor Orchard, can you explain how the gene therapy works and is it accessible to most people or is it just too costly?

PAUL ORCHARD: Well, the gene therapy clinical trials occurred in Europe, as Gary was alluding to, and the data was sufficiently positive that it was approved as therapy in the EU, essentially. So it's been licensed therapy there for several years, but none of the clinical trials have been done here in the US.

And because of the promise of this new therapy, we were gearing up to being able to offer this regardless, but there was the opportunity in this situation from Celia Grace's diagnosis to be able to intervene. So it's just become licensed therapy in the last month or so, as March 18th.

But prior to that and for Celia Grace, we had to petition the FDA to allow us to use it because it's still considered experimental therapy, and get all the approvals from all the various regulatory groups to be able to do that. So it took some time, but it opened the doors. And now we've treated a total of five patients with compassionate use therapy.

NINA MOINI: All right. Is it still pretty pricey, though? I understand it's among some of the priciest treatments.

PAUL ORCHARD: Yes, it is very expensive. So for the compassionate use treatment as an experimental therapy, the company actually donated the cell product, but it's millions of dollars now as licensed therapy.

NINA MOINI: Yeah. So still working to make it more accessible. Gary, you said something that really struck me in the trailer for the film. You said that you take care of people for a living. I understand you work in law enforcement, but you couldn't fix this for your daughter. And it seems like this film is really an exploration of your family's journey. Tell me how did that feel to feel sort of helpless in the moment, but then to see her go through this journey and be, I mean, cured?

GARY HAMLETT: We just felt very helpless, not knowing the outcome of it, how sick Grace was. Just thinking that we were going to lose our daughter. Possibly by the age of five-years-old.

NINA MOINI: Yeah.

GARY HAMLETT: And seeing her now as a normal seven-year-old, running, playing, is going to graduate in kindergarten, and it's just an amazing feeling.

NINA MOINI: Yeah, I'm sure. And so how is she doing? Tell us a little bit just about how she's getting around fine, and she's feeling well.

GARY HAMLETT: Oh, she is rambunctious, non-stop playing, running, doing her schoolwork. She is just like a typical seven-year-old little girl.

NINA MOINI: Yeah, and I understand some more patients are going to be undergoing that same treatment as Celia Grace, which is great news, Doctor Orchard.

PAUL ORCHARD: Yes, I hope it's going to be widely available. As you mentioned, the cost is going to be significant and attempting to determine how we're going to do this. The vast majority of these patients that we treat are obviously not from Minnesota.

And so being able to get insurance that's going to work across state lines and going to be sufficient for this is going to be a challenge. But that's one of the things that we're currently working on.

NINA MOINI: OK, and Gary, I'll leave the last question for you here. What do you hope people will take away from watching your family's story in this documentary?

GARY HAMLETT: The struggles of not knowing the outcome of your child. The struggles of possibly knowing that you will only have a few years with your child. And then knowing that there are people out there willing to help and willing to do anything possible to save your daughter or your son. I just can never repay everybody that along this journey for what they have done for my child.

NINA MOINI: Yeah, and it really sounds like it's some of the best parts of humanity and also some of the hardest struggles that anyone will go through. Thank you so much for sharing that journey and for being here, Gary. And to you as well, Doctor Orchard, thank you, and congratulations on this film reaching an audience today.

PAUL ORCHARD: Thank you.

GARY HAMLETT: Thank you so much.

NINA MOINI: Gary Hamlett is the father of Celia Grace Hamlett and Doctor Orchard is a pediatric blood and marrow transplant physician at M. Health Fairview. Both are featured in the documentary, "Sequencing Hope," which is premiering tonight at 7:00 PM. We'll have that information on our website, mprnews.org.

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Documentary about a family's journey to Minnesota for gene therapy premieres in Minneapolis - MPR News

Gene therapy is a medically-based practice that uses normalized genetics to replace genes which are either not present or abnormal for some individuals. Doctors would take the specific gene sequences that need adjustment, and then insert them into the cellular information of the patient in various ways. Most forms of gene therapy are still in the clinical research stage, but there have been stories of encouraging results.

Several inherited immune deficiencies are being treated successfully right now with gene therapy. When the blood stem cells are removed from patients, retroviruses then deliver working copies of the defective genes to the body.

For the gene therapy options which have been approved for use, there are many success stories to consider. Sebastian Misztal is one such story. He was a patient in a hemophilia gene therapy trial in 2011. After receiving the therapy, Misztal no longer experiences episodes of spontaneous bleeding.

Roughly 70% of the currently active gene therapy clinical trials are based in the United States. Europe approved their first treatment in this area in 2012. These are the pros and cons of this scientific approach to consider.

1. Gene therapy provides hope for those who may not have had any in the past.About 3% of American children are born with a genetic condition which requires gene therapy as a way to treat the issue. At this time, the diseases and disorders which are present in this population will take the life of the child before there is an opportunity to correct the condition. Birth defects are the leading cause of newborn death in the United States, with as many as 1 in 5 children suffering from them. Advances in gene therapy could help to correct these issues instead of forcing parents into a heartbreaking scenario.

2. Gene therapy could change the perspectives that people have about disease.Roughly 10% of all Americans are affected by a rare disease or condition on any given day. Approximately 33 million people are suffering from a disability that is directly attributed to their genetic profile. The promise of gene therapy is that it can reduce or eliminate the pain and discomfort that these abnormalities cause. 80% of the diseases that we know impact human health in negative ways have a genetic foundation. If we can replace the cells or chromosomes that are at-fault, then it becomes possible to offer relief.

3. Gene therapy could offer the potential of new discoveries.Our world is a better place when there is an emphasis on diversity. When we have effective gene therapy treatments that can save lives or prolong them, then we are adding strength to our existence. There will be more opportunities to research, new ideas that could lead to critical discoveries, and relationships that can lead to future generations that experience these benefits as well. There will always be a segment of society that looks at gene therapy as a way to play God. The reality of this medical treatment is that it can help people continue to live a life that they love.

4. Gene therapy could be used in different ways to improve life.Right now, the focus of gene therapy research is to provide solutions for people who are suffering from specific illnesses or diseases. When we begin to experience successes in this field, then the information we learn can apply to other treatment areas as well. Gene therapy could be useful in the treatment of infertility issues. The processes involved may help people struggling with vision or hearing issues. Even if the only thing that we can do with this science is to relieve chronic pain, that would be tremendously beneficial for the futures of many people.

5. Gene therapy does not just apply to human treatment options.When we discuss the pros and cons of gene therapy, it is essential to remember that the benefits we can experience as humans apply to other forms of life as well. The technologies we create from this research could help us to grow crops that adapt more effectively to changing climate conditions. We could use this information to correct the various genetic conditions that we know about in the animal kingdom. This data could help us to grow healthier foods, increase the shelf life of harvests, or produce more items in our overall yields.

6. Gene therapy allows us to use technology to improve the quality of life for people.Many of our medical discoveries rely on technological processes that we apply to natural items. Even some of the most critical advancements of our era, such as the development of a polio vaccine by Dr. Jonas Salk (and the work of many others) relied on the use of inactivated virus materials to create the first usable product. Gene therapy would become one of the first treatment options for doctors that was purely technological. That means our opportunity to develop new resources from it are virtually unlimited.

7. Gene therapy allows us to treat the untreatable diseases.Gene therapy is potential miracle worker when we start to look at its full potential for humanity. It offers us the opportunity to eliminate, and then prevent hereditary diseases like hemophilia and cystic fibrosis. The technologies behind this treatment option could provide us with a possible cure for heart disease. Potential medical options include cancer and AIDS cures. Even if there is a fair amount of risk involved when treating these health issues, there are a lot of patients who dont have much to lose. Gene therapy opens a door that we once thought was permanently locked.

1. Gene therapy does not have a reliable delivery method.Retrovirus delivery systems are the most common way for gene therapies to be delivered to patients. The problem with this option is that the enzyme used to encourage the transfer of genetic data can be eliminated by the immune system before it has the chance to work. There could be issues with cell division or replication that limit the effectiveness of the treatment.

When there is a noticeable change to the cell, the body might attack itself without the presence of an immunosuppressant. Until we can remove and replace genetic data with more reliability, the success stories for gene therapy will always be hit or miss.

2. Gene therapy is an expensive procedure.There are several gene therapy options which are available right now, but they come at a steep price. If you use Luxturna to treat both eyes as a way to treat blindness, then the final cost could be more than $1 million. Even the affordable options in this field start at $200,000 per treatment. Thats why many patients weight for clinical trials to begin, and then apply for a spot in one to receive the help they need. Most healthcare insurance plans will not cover the cost of these procedures because of their uncertainty.

3. Gene therapy requires ongoing treatment s to be effective.Many people have found that the benefits of their gene therapy treatments began to wear off as soon as they were no longer taking their medicine or visiting their doctor for treatments. It can be a lifelong course that someone must follow to reduce or eliminate the genetic issues that hold back their health. Unless you can keep taking the products which are often priced above $100,000 per treatment, then you will experience a reversal in your condition.

4. Gene therapy may not be able to adapt to a changing world.It has taken less than a century for prescription-grade antibiotics to no longer be as effective for the treatment of bacterial infections as it once was. Antibiotic resistance can impact anyone at any age, and in any country. Sometimes it occurs naturally, but the most common reason for this issue is that antibiotic misuse has led to a growing number of infections, including pneumonia, tuberculosis, and salmonellosis being more challenging to treat because the medicine is not as effective against the bacteria.

This issue could occur with gene therapies too. We have already seen people begin to have their progress reverse itself when they stop following their treatment plan. Over the next couple of generations, the body could start resisting this option too.

5. Gene therapy might only delay the inevitable.Jolee Mohr was lying in a Chicago hospital, her body swollen by internal bleeding and organ failure. The sight was so difficult that her husband decided not to bring their 5-year-old daughter into the room to say goodbye. Although there was no evidence to suggest a link, Jolee had taken an experimental treatment for rheumatoid arthritis. She was only 36 years old.

The National Institutes of Health approved the first human gene transfer study in 1989. Through 2006, there were 800 gene therapy studies that involved 5,000 patients. In those 17 years, the total number of approved therapies was zero. The only success story was a cure for the bubble boy disease that also caused leukemia thanks to the virus that delivered the treatment.

And Jolee wasnt the only story. A teenager named Jesse Gelsinger also died because of treatments offered inn a clinical research study. We must remember that there are sad stories to tell in addition to the happy ones when evaluating this treatment option.

6. Gene therapy will shift society toward new polarization.The United States is already highly polarized from a political perspective If gene therapies are approved for widespread use, then it may create another layer of separation from a medical perspective. Although most people can get behind the idea of creating a cure for cancer, birth defects, or chromosomal disorders, the processes used could also create designer genetics that promise a specific outcome. Should we pursue a scientific field that could help our children become smarter, faster, or better looking?

7. Gene therapy could change the way we think about competition.Although the discussion of designer babies often involves looks, the science behind gene therapy could also encourage specific traits to develop in children. Parents with wealth could work with their doctors to support a healthier muscle mass, faster fat burning capabilities, or an adaptive body frame that allows for greater flexibility in sports. People could design an outcome where results could follow a curve where outcomes could be planned for years in advance. This process would result in another layer of socioeconomic separation that would likely lead to even more polarization.

The pros and cons of gene therapy still require a lot of soul searching, even though we are 30 years and counting into this field of research. We are beginning to see some successes, but it has also come at the expense of some high-profile failures. Only time will tell if we can put this information to good use for the betterment of humanity. Until then, we must continue searching to find more solutions to the significant health issues our race faces each day.

See the article here:
14 Advantages and Disadvantages of Gene Therapy - ConnectUS

Many people whove recently received a diagnosis of type 1 diabetes (T1D) immediately think, When will there be a cure?

While the potential for a cure has been dangling in front of people with T1D for what seems like forever, more researchers currently believe that gene therapy could finally one day soon, even be the so-called cure thats been so elusive.

This article will explain what gene therapy is, how its similar to gene editing, and how gene therapy could potentially be the cure for T1D, helping millions of people around the world.

Gene therapy is a medical field of study that focuses on the genetic modification of human cells to treat or sometimes even cure a particular disease. This happens by reconstructing or repairing defective or damaged genetic material in your body.

This advanced technology is only in the early research phases of clinical trials for treating diabetes in the United States. Yet, it has the potential to treat and cure a wide range of other conditions beyond just T1D, including AIDS, cancer, cystic fibrosis (a disorder that damages your lungs, digestive tract, and other organs), heart disease, and hemophilia (a disorder in which your blood has trouble clotting).

For T1D, gene therapy could look like the reprogramming of alternative cells, making those reprogrammed cells perform the functions your original insulin-producing beta cells would otherwise perform. If you have with diabetes, that includes producing insulin.

But the reprogrammed cells would be different enough from beta cells so that your own immune system wouldnt recognize them as new cells and attack them, which is what happens in the development of T1D.

While gene therapy is still in its infancy and available only in clinical trials, the evidence so far is becoming clearer about the potential benefits of this treatment.

In a 2018 study, researchers engineered alpha cells to function just like beta cells. They created an adeno-associated viral (AAV) vector to deliver two proteins, pancreatic and duodenal homeobox 1 and MAF basic leucine zipper transcription factor A, to a mouses pancreas. These two proteins help with beta cell proliferation, maturation, and function.

Alpha cells are the ideal type of cell to transform into beta-like cells because not only are they also located within the pancreas, but theyre abundant in your body and similar enough to beta cells that the transformation is possible. Beta cells produce insulin to lower your blood sugar levels while alpha cells produce glucagon, which increases your blood sugar levels.

In the study, mouse blood sugar levels were normal for 4 months with gene therapy, all without immunosuppressant drugs, which inhibit or prevent the activity of your immune system. The newly created alpha cells, performing just like beta cells, were resistant to the bodys immune attacks.

But the normal glucose levels observed in the mice werent permanent. This could potentially translate into several years of normal glucose levels in humans rather than a longtime cure.

In this Wisconsin study from 2013 (updated as of 2017), researchers found that when a small sequence of DNA was injected into the veins of rats with diabetes, it created insulin-producing cells that normalized blood glucose levels for up to 6 weeks. That was all from a single injection.

This is a landmark clinical trial, as it was the first research study to validate a DNA-based insulin gene therapy that could potentially one day treat T1D in humans.

This was how the study worked:

The researchers are now working on increasing the time interval between therapy DNA injections from 6 weeks to 6 months to provide more relief for people with T1D in the future.

While this is all very exciting, more research is needed to determine how practical the therapy is for people. Eventually, the hope is that the AAV vectors could eventually be delivered to the pancreas through a nonsurgical, endoscopic procedure, in which a doctor uses a medical device with a light attached to look inside your body.

These kinds of gene therapy wouldnt be a one-and-done cure. But it would provide a lot of relief to people with diabetes to perhaps enjoy several years of nondiabetes glucose numbers without taking insulin.

If subsequent trials in other nonhuman primates are successful, human trials may soon begin for the T1D treatment.

Does that count as a cure?

It all depends on who you ask because the definition of a cure for T1D varies.

Some people believe that a cure is a one-and-done endeavor. They see a cure as meaning youd never have to think about taking insulin, checking blood sugars, or the highs and lows of diabetes ever again. This even means you wouldnt have to ever go back to a hospital for a gene therapy follow-up treatment.

Other people think that a once-in-a-few-years treatment of gene editing may be enough of a therapy plan to count as a cure.

Many others believe that you need to fix the underlying autoimmune response to truly be cured, and some people dont really care one way or another, as long as their blood sugars are normal, and the mental tax of diabetes is relieved.

One potential one-and-done therapy could be gene editing, which is slightly different from gene therapy.

The idea behind gene editing is to reprogram your bodys DNA, and if you have type 1 diabetes, the idea is to get at the underlying cause of the autoimmune attack that destroyed your beta cells and caused T1D to begin with.

Two well-known companies, CRISPR Therapeutics and regenerative med-tech company ViaCyte, have been collaborating for a few years to use gene editing to create islet cells, encapsulate them, and then implant them into your body. These protected, transplanted islet cells would be safe from an immune system attack, which would otherwise be the typical response if you have T1D.

The focus of gene editing is to simply cut out the bad parts of our DNA in order to avoid conditions such as diabetes altogether and to stop the continuous immune response (beta cell attack) that people who already have diabetes experience daily (without their conscious awareness).

The gene editing done by CRISPR in their partnership with ViaCyte is creating insulin-producing islet cells that can evade an autoimmune response. These technology and research are ever evolving and hold a lot of promise.

Additionally, a 2017 study shows that a T1Dcure may one day be possible by using gene-editing technology.

Both gene therapy and gene editing hold a lot of promise for people living with T1D who are hoping for an eventual future without needing to take insulin or immunosuppressant therapy.

Gene therapy research continues, looking at how certain cells in the body could be reprogrammed to start making insulin and not experience an immune system response, such as those who develop T1D.

While gene therapy and gene-editing therapy are still in their early stages (and much has been held up by the coronavirus disease 19 [COVID-19] pandemic), theres a lot of hope for a T1D cure in our near future.

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Gene therapy: The Potential for Treating Type 1 Diabetes - Healthline

Two years ago, a mother received a phone call with a devastating diagnosis. That mother shares her son's experience with spinal muscular atrophy (SMA), a rare genetic disease, and how early diagnosis and treatment transformed his life.

BANNOCKBURN, Ill., Oct.12, 2022 /PRNewswire/ --

BACKGROUND:

Hannah Weaver did not think much about her son Payne's newborn screening test until she received a phone call five days after bringing him home from the hospital. The results showed Payne tested positive for spinal muscular atrophy (SMA), a rare, progressive neuromuscular disease and a leading genetic cause of infant death when left untreated that affects one in every 11,000 babies born in the U.S.1,2 SMA causes irreversible loss of motor neurons, which can rob infants of their ability to walk, swallow and even breathe.1,2 If left untreated in its most severe forms, 90% of children require permanent feeding and breathing support or pass away by their second birthday.3,4 SMA can progress quickly, making early diagnosis and treatment crucial.

Experience the full interactive Multichannel News Release here: https://www.multivu.com/players/English/9064751-novartis-spinal-muscular-atrophy-health-alert/

Knowing it was imperative to act fast, the Weaver family worked quickly to schedule appointments with specialists to discuss treatment options. Payne's care team went over the available treatment options for SMA, discussing the route of administration and available efficacy and safety data of each. Together, they decided to treat Payne when he was just a few weeks old with a gene therapy called ZOLGENSMA (onasemnogene abeparvovec-xioi), the only SMA treatment designed to directly address the genetic root cause of the disease by replacing the function of the missing or non-working SMN1 gene with a single, one-time dose.

Zolgensma has a boxed warning for acute serious liver injury and acute liver failure. In clinical trials, the most common side effects were elevated liver enzymes and vomiting. Please keep reading for additional important safety information and please see accompanying Full Prescribing Information.

Payne's parents are now able to plan for his future something that would not be possible without early intervention and treatment. They look forward to what he will accomplish next and celebrate every milestone along the way. On the heels of SMA Awareness Month, we kick off Newborn Screening Awareness Month this September, and Hannah is advocating for parents and physicians to recognize the early signs of SMA to avoid a delayed diagnosis.

Dr. Sandra Reyna (Vice President of Global Medical Affairs at Novartis Gene Therapies) and Hannah Weaver (SMA parent advocate) shared information on the signs of SMA, the importance of an early diagnosis, and how Zolgensma has the potential to transform the lives of babies born with this disease.

Results and outcomes vary among children based on several factors, including how far their SMA symptoms progressed prior to receiving treatment.

Please continue reading for Indication and Important Safety Information, and please see accompanying Full Prescribing Information including Boxed Warning.

For more information, please visit: http://www.Zolgensma.com

Interview opportunities are courtesy of Novartis Gene Therapies.

About Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disease and a leading genetic cause of infant death.3,5Caused by the lack of a functional SMN1 gene, the most severe forms of SMA result in the rapid and irreversible loss of motor neurons, affecting muscle functions including breathing, swallowing and basic movement.1Severity varies across a spectrum of types corresponding to the number of copies of the back-up SMN2 gene.6The majority of patients with two copies of SMN2 develop Type 1, the most common form accounting for 60 percent of cases.4,7,8Type 1 is severe and, left untreated, leads to death or the need for permanent ventilation by the age of two in more than 90 percent of cases.3,5Most patients with three copies of SMN2 develop Type 2, accounting for about 30 percent of cases.4,8 Loss of motor neurons cannot be reversed, so it is imperative to diagnose SMA and begin treatment, including proactive supportive care, as early as possible to halt irreversible motor neuron loss and disease progression.9,10

IndicationandImportant Safety InformationforZOLGENSMA(onasemnogeneabeparvovec-xioi)

Whatis ZOLGENSMA?

ZOLGENSMA is a prescription gene therapy used to treat children less than 2 years old with spinal muscular atrophy (SMA). ZOLGENSMA is given as a one-time infusion into a vein. ZOLGENSMA was not evaluated in patients with advanced SMA.

WhatisthemostimportantinformationIshouldknowaboutZOLGENSMA?

Whatshould Iwatchforbeforeandafterinfusion withZOLGENSMA?

WhatdoIneedtoknowaboutvaccinationsandZOLGENSMA?

DoIneedtotakeprecautionswiththepatient'sbodilywaste?

Temporarily, small amounts of ZOLGENSMA may be found in the patient's stool. Use good hand hygiene when coming into direct contact with bodily waste for 1 month after infusion with ZOLGENSMA. Disposable diapers should be sealed in disposable trash bags and thrown out with regular trash.

Whatarethepossible orlikelysideeffectsof ZOLGENSMA?

The most common side effects that occurred in patients treated with ZOLGENSMA were elevated liverenzymesandvomiting.

The safety information provided here is not comprehensive. Talk to the patient's doctor about anysideeffects thatbotherthepatientorthatdon'tgoaway.

You are encouraged to report suspected side effects by contacting the FDA at 1-800-FDA-1088 orwww.fda.gov/medwatch,orNovartis GeneTherapiesat833-828-3947.

Please see the Full Prescribing Information.

2022 Novartis Gene Therapies, Inc.

US-ZOL-22-0136

References

MEDIA CONTACT: Katie Lesch, [emailprotected]

SOURCE Novartis Gene Therapies

Originally posted here:
Health Alert for Parents: How one boy is thriving following treatment with a gene therapy after receiving an early diagnosis - PR Newswire

Its October and for the past few years thats meant masks and wait on your vaccine shot. Its also meant hesitancy, political division and limitation on what you can and cannot do with your day. This October seems to be different. Theres been no mask mandate, nor have there been any closures, and thats mostly to do with the gradual weakening of the variants of the COVID-19 virus. But that doesnt mean were through the woods and out the other side. The variant strains may be weaker, but there are still dangers attached. Its good for us that there are medical tech and biotechnology companies out there in the space looking for cures and treatments better than those presently on the market.

Thats also not to disregard the host of other health related issues we face as a society every winter.

Here are five biotechnology and medical tech companies pooling their resources to make our lives easier.

Novavax (NASDAQ:NVAX) presented data from its phase 3 PREVENT-19 trial and study 307 at the World Vaccine congress Europe 2022.

The data from adults and adolescents aged 12 to 17 showed the companys prototype COVID-19 vaccine (NVX-COV2373) met its immunologic endpoint. Also, study 307 met its objective, showing that three lots of the vaccine tested as a successful booster for immune responses in previously vaccinated adults.

These data further demonstrate the consistent immunogenicity and safety profile of the Novavax COVID-19 vaccine as a booster, regardless of previous vaccine history. These data are an early indication that our vaccine may be effective against variants such as Omicron. We have ongoing trials further exploring the Novavax COVID-19 vaccines potential as an effective booster against these variants, including BA.4/5, and look forward to sharing these data, said Gregory M. Glenn, M.D., president of research and development for Novavax.

Novavax wants the world to be a healthier place and its working towards that end. It does this through the discovery, development and commercialization of vaccines for serious infectious diseases. The company uses a recombinant technology platform to produce drugs that boost the immune system in response to global health needs.

The Novavax COVID-19 vaccine is a protein-based vaccine engineered from the genes of the first SARS-CoV-2 strain. The company put the vaccine together using its recombinant nanoparticle technology to generate antigen from the original coronavirus spike protein. The company reformulates the antigen to enhance the immune response and help with developing high levels of neutralizing antibodies.

Multiple regulatory bodies across the world, including the FDA, the WHO and the European Commission, have given the sign off on the companys COVID-19 vaccine. Its presently under review by more.

Also, Novavax is working on a COVID-19-Influenza combination vaccine. Its presently in a Phase 1/2 clinical trial.

The PREVENT-19 trial involved an adult receiving a booster dose approximately eight or 11 months after the primary dose. The anti-spike immunoglobulin G, which is a type of antibody, levels increased relative to pre-boost levels.

They rose significantly, with neutralizing antibodies increasing by 34 to 27 fold compared to pre-boost levels when boosted at eight or 11 months.

The booster evaluations were the same in the version of the PREVENT-19 expansion given to adolescents between 12 and 17. The tests showed a significant antibody boost against Omicron BA.1, BA.2, and BA.5.

The Vitamin Shoppe, a subsidiary of Franchise Group (NASDAQ:FRG), is offering a free protein bar or healthy snack to anyone who can prove they have gotten their flu vaccine.

The name of the campaign is Snax for Vax and it supports healthy communities during the flu season. It isnt quite as catchy as vax and scratch or shot and a beer, which were a free scratch lotto card or a free beer for getting the COVID-19 vaccine, but if it gets people out, then its probably doing its job.

The Vitamin Shoppe is dedicated to the lifelong wellness of our customers and the communities we serve. Public health experts have advised that the current flu season may be severe, so we want to encourage Americans to engage in healthy habits, such as getting an annual flu vaccine and supporting their immune systems with a healthy diet, regular exercise, and proper sleep routines. Our Health Enthusiast store teams look forward to our Snax for Vax weekend and giving away some of our most popular, protein-packed snacks as a tasty and healthy reward for supporting your wellness with a flu vaccine, said Sharon Leite, CEO of The Vitamin Shoppe.

The Vitamin Shoppe is a omnichannel specialty retailer and wellness lifestyle company. Its based in Secaucus, New Jersey, and offers an assortment of nutritional offerings, including vitamins and minerals, supplements and herbs, sports nutrition and homeopathy remedies. It also carries products from approximately 700 national brands. It also has its own brands, including The Vitamin Shoppe, Vthrive The Vitamin Shoppe, BodyTech, BodyTech Elite, fitfactor, fitfactor KETO, plnt, ProBioCare, True Athlete, and TrueYou.

The campaign kicks off on October 22-23 wherein anyone who gets a recent flu vaccine complete with proof from a doctor, pharmacist or other healthcare provider, can pick a protein bar or snack from any of the 700 The Vitamin Shoppe and Super Supplements stores in the U.S. and Puerto Rico. No purchase required.

Some of the options include:

Read more: The Mugglehead technology roundup: alternative medicine options edition

Read more: Transforming System licenses platforms for greater operational efficiency: NHS

Excellence Canada awarded Scotiabank (TSX:BNS) (NYSE:BNS) with the Gold Standard Award for its role in creating a psychologically safe environment.

Depression causes an estimated 200 million lost workdays, and costs $17 billion to $44 billion to employers, according to the Center for Disease Control (CDC). Half of employees suffering from depression go untreated. The disease effects the absentee rate, causes loss of productivity, and effects the overall climate in the workplace. Thats why this is important.

World Mental Health Day provides an opportunity for us to listen and reflect on the importance of the mental health and well being for all of our employees. The recognition from Excellence Canada is a proud moment for us as an employer, recognizing the culture we strive to create for employees, said Barb Mason, group head and chief human resources officer for Scotiabank. By supporting and empowering employees to take care of their mental health and wellbeing, and speak up about how theyre feeling, were creating a workplace where everyone can thrive.

Scotiabank has made a number of different contributions to maintaining sustained mental health, including:

Bioproduction tool and service provider for cell and gene therapy (CGT), BioLife solutions (NASDAQ:BLFS), and temperature control shipping solution provider Csafe inked a partnership to provide a global service net in support of CGT products.

The overall goal of the partnership is to increase reliability, enhance security and improve quality. Csafe is joining BioLifes global network of cold chain solution providers in the CGT market. The numbers bear out to 10,000-12,000 shipments of CGT materials and manufactured doses over a year. Specifically, the new partnership provides expanded supply chain options for any CGT product at any stage of development.

CSafe is honored to partner with the team at BioLife Solutions, whose range of CGT bioproduction tools and services is peerless in the market. We are excited to merge these exceptional tools and services with our expertise in global, reliable scaled delivery. CGT is hitting its stride and needs global support. We know how important these therapies are to patients everywhere, and its our mission at CSafe to protect every shipment, said Patrick Schafer, CSafe CEO.

BioLife Solutions is a supplier of bioproduction tools and services for CGT and other biopharma markets. Its tools include the CryoStor and HypoThermosol biopresevation media for shipping and storage. Additionally, the ThawSTAR family of automated, water-free thawing products, and the evo cold chain management system.

In contrast, Csafe offers thermal shipping solutions for pharma cold chain shipping needs. Csafe deliveries use active and passive bulk air cargo, parcel, cell and gene and specialty last-minute use cases that can meet the complete range of pharma cold-chain shipping requirements with quality and reliability.

Additionally, Csafe operates from over fifty service centers worldwide. The company has built a reputation as a proven partner for biopharmaceutical manufacturers looking to simplify supply chain woes. This includes a track record for finding shipping solutions for six billion doses of a COVID-19 vaccine.

Were excited to work with a global partner with a strong history of reliability and performance and a deep dedication to innovative therapies, said BioLife Solutions CEO Mike Rice. We have the best LN2 technology and cGMP storage facilities in the market, in addition to our other world-class CGT solutions, and we are confident our collaboration with CSafe will extend our reach and result in even more reliability and real-time service for CGT partners.

The cold chain CGT market was worth USD$1.3 billion in 2021. The market is anticipated to reach USD$2.8 billion at a compound annual growth rate of 14.29 per cent until 2027.

IceCure Medical (NASDAQ:ICCM) is a company with a curious bit of technology. It uses something called cryoablation technology, which it has called the ProSense System. It destroys tumours by freezing as an alternative to surgical removal.

IceCure announced that its ProSense cryoprobes and introducers have received regulatory approval from Agncia Nacional de Vigilncia Sanitria (ANVISA), the Brazilian health regulatory agency, to operate in said country. The company originally submitted the application in June 2022 through KTRFIOS IMPORTACAO E EXPORTACAO LTDA, IceCures distributor in Brazil

We are very pleased to achieve this first step in the path to receiving full regulatory approval in Brazil. Working with KTRFIOS has been highly productive, and we anticipate strong demand in Brazil upon the additional pending approval of the ProSense Cryoablation System,said Eyal Shamir, IceCures CEO.

The ProSense cryoprobes and introducers are disposal Class II devices as per ANVISA. Doctors insert cryoprobes into the body to freeze tumours, after which, introducers go to work on the tumour tissue. However, the system is considered a Class III medical device and the application is presently waiting for approval.

IceCures distribution agreement with its Brazilian partner includes the guarantee of at least USD$6.6 million sales in five years.

Previously, the company sought regulatory approval to operate in Vietnam. It submitted a filing for its ProSense System and accessories with the Department of Medical Equipment and Construction (DMEC) of Vietnams Ministry of Health.

The application included benign and malignant tumours in the breasts, lungs, liver, kidneys, and musculoskeletal tumours.

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The Mugglehead technology roundup: medical tech and biotechnology edition - Mugglehead

Commentary

I am being somewhat ironic. But really, not that ironic.

How many people in the land of the free lost their ability to care for their families for refusing to go along with the COVID-19 jab mandates?

For saying no to injecting themselves with an experimental gene therapy vaccine, even thoughmost of them were not at severe risk from the virus?

When Pfizer executive Janine Small admitted to the European Parliament on Oct. 10 that the vaccine had never been tested to stop the viruss transmission, many may have subsequently felt vindicated.

Conservative Member of the European Parliament from the Netherlands Rob Roos asked Small point-blank whether the claim that we were all fed from day one of the vaccines release had any grounding in fact.

Those who refused the shot on principle endured the vitriolic attack by their government and peers. They were labeled as antisocial and denied access to society in many cases.

Roos may have made his statement in Brussels, but it also resonated with those of us in the United States and Canada. The latter endured particularly draconian lockdown orders and vaccination requirements.

When Dr. Anthony Fauci told us that the vaccine turns you into a dead end for the virus, we were told to trust the science. Now, Small tells us that the speed of science was moving too fast to be able to test that claim.

In other words, she reaffirmed what many of us already knewmuch of the COVID fiasco has been unrelated to any actual science but rather a pretext for the government to increase its power.

Conform, or else become an untouchable. That was their goal all along. Divide and conquer. Remember when nearly 50 percent of Democratic voters said they would potentially be okay with forcibly interning the unvaccinated in isolated locationsyou know, as in camps? Forty-eight percent wanted the government to fine or imprison anyone who merely questioned the efficacy of vaccines.

Its not just livelihoods. How many families were torn apart by the governments nonsensical tyranny? Many of us had holidays canceled, gatherings unattended, and relatives who just outright stopped talking to us because we werent vaccinated.

They bought into the narrative that was pushed on us from every direction. No vaccine, no life.

What about going to nursing homes or hospitals to see our loved ones in their most vulnerable moments when they most needed the warmth and comfort of friends and family gathered around? Even when we said, Fine, Ill get tested if I need to. Nope. Not good enough.

Were there vaccine requirements in place when George Floyd died, and the entire country was allowed to go on an anti-racist blood-letting, parading in the streets and burning down cities?

No? Oh, right, that was when over 1,000 medical health professionals signed a letter saying that the protests were more important than any worries related to COVID.

What about when all those young professionals celebrated in front of the White House gates when Joe Biden was declared the winner of the presidential race, attacking an effigy of then-President Donald Trump?

Well, of course, you cant let COVID get in the way of thatTrump posed the greatest threat to this country since the Cuban Missile Crisis. Remember all those mean tweets!

This is nothing new to most of us here. Anyone who could see beyond the faade of the established science knew that the media and government, as well as the medical and pharmaceutical industries, were propagating falsehoods and exaggerations to cow us into going along with their agenda.

The COVID response is a social trauma that will likely take at least a generation to recover from. As we learn morenot only about the vaccines ineffectiveness in stopping the virus, but the potentially harmful side-effects accompanying itthe wound will only grow deeper.

This all says nothing of the largely pointless lockdowns, the repercussions of which have yet to be fully understood. Skyrocketing drug use and overdose, stunted mental development for children and impaired learning, increased depression, and missed doctor appointments. All of these considerations were buried under the government demand to trust the science.

Still, many of these considerations were out of our control. Whether or not we got the vaccine was one of the few areas where we had an actual choice. In the United States, at least, they still did everything they could to make that choice as difficult as possible.

Sure, youre free not to get the vaccinebut youre a bad person, and we will do everything in our power to ostracize you from society.

So hearing Small (the Pfizer executive) plainly state that they had no scientifically tested basis for claiming that the virus stopped transmission might seem like a victory.

But its only a moral victory.

Im not kidding when I say that I believe reparations are justified. Maybe not in a cash hand-out, but an easy place to start would be the various businesses that were forced to fire employees offering to hire back the unvaccinated with back pay for the income lost. The government should support this.

Then again, those employees might not want to be rehired by the employers who betrayed them. The government should still pay the difference in lost income for those who lost their jobs.

Washington can send endless billions to Ukraine because of democracy. So why not take care of the citizens in our own country? You know, the citizens that it turned its back on.

That is likely too much to expect, at least from this administration. We all know that. Most of the individuals who refused the jab on principle probably dont want Washingtons money anyways. Thats fine.

But there is one other thing that the people of this country undoubtedly deserveeven more than reparations. It is something that they will almost definitely never get.

How about an apology?

Views expressed in this article are the opinions of the author and do not necessarily reflect the views of The Epoch Times.

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Dominick Sansone is a PhD student at the Hillsdale College Van Andel Graduate School of Statesmanship. He is a regular contributor to The Epoch Times, and has additionally been published at The American Conservative, The Federalist, and the Washington Examiner.

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The Unvaccinated Deserve Reparations - The Epoch Times

Jeanne Smith of Ferndale, Michigan, was diagnosed with invasive ductal carcinoma, the most common form of breast cancer, in May 2014 at the age of 44.

The cancer was caught very early, and after a lumpectomy and six weeks of radiation, I was on my way, she says.

For the next three years, Smith had follow-up appointments every six months to ensure she remained cancer-free. By February 2017, she was cleared to drop down to yearly follow-ups. But in July 2017, while swimming in her sisters pool, Smith noticed a small purple bruise on her right breast, the same side where she had cancer.

She figured she had bumped it when she jumped onto a pool float. A month later, however, at her annual gynecology appointment, the bruise was still there, so she pointed it out to her doctor. He said bruises were not uncommon on previously radiated breasts but that if it was still there in two weeks to call him.

Two weeks later, the bruise seemed to be growing, which was odd. Bruises shouldnt grow. It was also odd that the bruise was painless, Smith says.

Her gynecologist referred her back to her breast specialist, but the breast specialist commented that shed never seen anything like that and referred her back to her radiation oncologist. Smith wasnt able to see the oncologist right away, so the nurse took a picture of the bruise and sent it to the doctor.

That night, my radiation oncologist called me and said, I need to get you in here. I think you have angiosarcoma, she recalls.

Smith had secondary breast angiosarcoma, also called radiation-induced breast angiosarcoma. This type of cancer develops in people who have previously been treated for breast cancer. Most often, it happens in women who have had radiation to the breast. But it can also arise in women whove had long-term lymphedema (swelling) in the breast or arm.

Breast angiosarcoma starts in the blood or lymphatic vessels of the breast, and the first signs can appear on the skin of the breast or the arms. It can grow and sometimes spread quickly to other parts of the body.

Smith didnt know what angiosarcoma was, and its no wonder. Its extremely rare. Far fewer than 1% 0.05% to 0.3% of breast cancer survivors who have breast-conserving surgery followed by radiation later develop secondary breast angiosarcoma, according to study findings published in the journal Clinical Sarcoma Research in 2017.

Smith didnt recall learning about the risk for secondary cancers before she started radiation, but even if she had, it wouldnt have changed her care.

The benefits of radiation far outweigh the risk of ever getting angiosarcoma, she says.

Angelia Carpenter of New London, Missouri, developed angiosarcoma of the breast five years after completing treatment for breast cancer, which included a lumpectomy, chemotherapy and radiation. Only then did she go back and look at some of the patient information she received prior to starting radiation.

At the bottom of the page, it says that less than 1% of patients that receive radiation may have some of these other problems, Carpenter recalls.

When doctors dont go into great detail about the extremely low risk of angiosarcoma after breast radiation, its not necessarily an oversight. They may underemphasize this risk by design. Like any medical decision, the benefits must be weighed against the risks and in most situations, the reduction in the risk of recurrence or death due to breast cancer by far outweighs the risk of developing or dying of angiosarcoma. However, this points out the need to provide these numbers as best estimates of the patients specific situation.

We can educate as long as we dont alarm people, says Dr. David Euhus, a breast surgeon and professor of surgery at Johns Hopkins Medicine in Baltimore. Angiosarcoma is a terrible thing, but if anyone ever decided not to have radiation because they didnt want to get angiosarcoma, then we would have done them a huge disservice.

When women do learn about this risk, they typically hear about it from their radiation oncologist before undergoing treatment.

At our institution and I would imagine at other tertiary care centers patients are informed of the risk of developing a secondary angiosarcoma post-radiation, typically showing up six to 10 years after theyve had radiation, but we emphasize that the risk is less than 1%, explains Dr. Yara Abdou, a breast medical oncologist at UNC Lineberger Comprehensive Cancer Center in Chapel Hill, North Carolina.

Because secondary breast angiosarcoma is so rare, its a challenge to study large groups of women who have had this cancer and identify any potential risk factors they may have in common. As a result, there is limited research in this area.

The typical patient who will get this is someone whos had breast-conserving therapy, which includes lumpectomy followed by radiation, for their generally early-stage breast cancer. Many years after thats completed, a small subset of these people will develop secondary angiosarcoma, advises Dr. Michael Wagner, a medical oncologist who treats sarcomas at Fred Hutchinson Cancer Center in Seattle and assistant professor at the University of Washington School of Medicine.

Besides radiation exposure, chronic lymphedema after breast cancer treatment is also a risk factor. Outside these known risks, there isnt a consensus on other risk factors.

A study published in the Annals of Surgical Oncology in 2021 of nearly 600 women who had secondary breast angiosarcoma found that the following factors may also put patients at higher risk:

White race.

Older age.

Having had an invasive tumor.

Lymph node removal (a cause of lymphedema).

Having had a lumpectomy.

Having had a tumor in the left breast.

Identifying the risk factors for this late complication is one of the main challenges, notes Dr. Suzanne George, a medical oncologist and director of clinical research at the Dana-Farber Cancer Institute Sarcoma Center and associate professor of medicine at Harvard Medical School in Boston. What puts someone at risk, and is there anything we can do to modify those risk factors early on? Thats a super important question.

Although risk for this secondary cancer is extremely low, its important to know the signs to catch it early, especially because angiosarcoma of the breast can spread quickly.

As with many cancers, management when its (diagnosed) early likely improves longer-term outcomes, George says.

The most common signs of secondary breast angiosarcoma are:

Swelling in the breast or arm.

A painful lump in the breast.

A discoloration on the skin of the breast or arm that looks like a bruise or rash.

Women can get bruises on their breasts, Euhus mentions. Thats far more common than angiosarcoma. But a bruise should start to fade in a couple of days. A bruise thats not fading needs a skin punch biopsy a two-minute procedure in the office.

Women can also develop other types of radiation-related discolorations on their breasts that arent cancerous.

They can get little vascular lesions, but theyre not growing, which can be confused with angiosarcoma, Wagner notes. Or an angiosarcoma can be confused with just an abnormal growth of blood vessels. Thats why its very important that a pathologist trained and experienced in sarcoma review the biopsy sample.

A skin biopsy is the key tool in diagnosis of secondary breast angiosarcoma and is ideally done in the context of an evaluation by a dermatologist. Diagnosis might also involve a mammogram, breast MRI, PET scan or ultrasound.

Another challenge of extremely rare cancers is identifying the most effective treatment. Theres no standard, go-to treatment for secondary breast angiosarcoma, so doctor recommendations may vary by hospital.

Since its a very rare tumor, theres a limited number of published studies, so treatment guidelines are based on expert opinion rather than published data, Abdou mentions. We usually extrapolate data or experience from other soft tissue sarcomas.

Surgery, however, is the key component of treatment. Surgical options include complete mastectomy of the radiated breast or removal of only the affected, discolored area, much like removal of a cancerous mole.

We think of it as a malignancy of the skin, George advises. It can extend deeper into the breast tissue itself, but we think of it as originating in the skin.

Research has begun to show that the more radical surgery option gets far better results. A 2017 study in Annals of Surgery looked at the percentage of women who had not died from breast angiosarcoma (that is, disease-specific survival) within five years of either radical or conservative surgery. The five-year disease-specific survival rate among women whod had the most aggressive surgery was 86% compared with 46% of women whod had the more conservative surgery.

Surgery is the mainstay of treatment for secondary breast angiosarcoma. Whether doctors recommend additional adjuvant chemotherapy or radiation treatments varies from one health care facility to the next. When they do recommend it, doctors tend to use a taxane-based chemotherapy regimen. But it may not be beneficial for everyone.

The vast majority (of patients) are not terribly chemotherapy sensitive, but there is a small subset of patients who are exquisitely sensitive to Taxol (paclitaxel), the common chemotherapy drug we use in the breasts, Euhus notes.

In some cases, though it may seem counterintuitive, people get radiation for this type of cancer, too.

Its the tissue damage and inflammation (from previous radiation) thats causing the breast angiosarcoma in the first place, but the radiation therapy post surgery is cleaning up whatever cancer cells may be left in the breast, Abdou says.

Smith had surgery to remove the radiated breast and chemotherapy to treat the breast angiosarcoma. She has been cancer-free since she completed treatment in 2018.

Carpenter had surgery in 2016, and nine months later, that familiar purple bruise reappeared near her mastectomy scar.

Recurrence rates for this type of cancer are high around 50% according to some estimates. Carpenter, now 62, has learned to live with that risk.

Some tell me my risk for another recurrence goes down as I get older, but others say its not if but when, she notes. Ive learned I also have to live my life. Im just diligent about it. If anything comes up around my scar, we watch it.

After her recurrence, Carpenter had another surgery, which she describes as having left a hole in her chest, to remove as much tissue as possible from the radiated side of her chest and additional tissue from under her arm. After surgery, she underwent chemotherapy.

When we get a localized recurrence, if its possible to do another surgery, we would treat it in the same way with surgery and chemotherapy, Wagner advises. If a repeat surgery isnt possible, we would use systemic medicines, such as chemotherapy or targeted drugs.

Recurrences can be harder to get under control than first occurrences. Research is underway to identify other medications that may be more effective than the current options. The Alliance for Clinical Trials in Oncology has an ongoing trial examining the efficacy of immunotherapy in the treatment of angiosarcomas.

Trial participants who have never been treated with taxane-based chemotherapy will receive Taxol with or without Opdivo (nivolumab). Those who have already had taxane will receive Opdivo and Cabometyx (cabozantinib).

Opdivo, already in use in numerous metastatic cancers, is whats known as a checkpoint inhibitor, the most common class of immunotherapy used in cancer. It blocks proteins on the surface of cancer cells that protect them from an immune system attack. Cabometyx, also used in the treatment of several other metastatic cancers, is whats known as a kinase inhibitor and targets certain gene mutations in cancer cells that help the cancer grow and spread.

Novel approaches to immunotherapy, targeted therapy and combinations with standard chemotherapy are all areas of current research interest, George says. This disease can be very challenging when it recurs, so we need to continue to work toward improving systemic therapies through ongoing international trials and collaboration across the community of patients and physicians. Thats whats going to help us improve outcomes.

For more news on cancer updates, research and education, dont forget tosubscribe to CUREs newsletters here.

To learn more about Angelia Carpenter's experience with secondary angiosarcoma after undergoing breast cancer treatment and what it was like to be left with a hole in her chest, listen to this episode of the "Cancer Horizons" podcast.

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New Approaches Have Emerged that May Better Treat Secondary Breast Cancer Years After an Initial Diagnosis - Curetoday.com

What if people who need regular injections to treat chronic diseases could instead take a pill that precisely controls the production of the right proteins and hormones inside their bodies?

A promising new gene therapy technology that aims to turn the human body into such a medicine-making factory could, if successful, push the boundaries of medicine and make certain treatments much more convenient and potentially less expensive.

MeiraGTx, a gene therapy company, is working to make this futuristic vision a reality.

The British company already develops traditional gene therapy, which replaces missing or broken genes in people with inherited disorders. That side of business is booming, and the firm just opened a manufacturing facility in Ireland that could employ up to 300 people.

But MeiraGTx is also making strides in what it calls gene regulation therapy, which it says could help control much more precisely the genes that instruct cells to make or stop making certain proteins.

Its no easy feat and the technology would take years to bring to market, but it has the potential to make gene therapy even more life-changing for patients.

When you put a gene or replace a missing gene into a cell today, you put the gene in and it is expressed for the rest of that cell's life, MeiraGTx CEO Alexandria Forbes told Euronews Next.

Its very hard to build a gene therapy that is switched on and off when it's needed, particularly in a disease. And what's even harder is to create a gene therapy which is switched on or off when you, the doctor or patient, want it to be.

MeiraGTx says it has developed a switch of this sort that could help make patients lives much easier: rather than injecting synthetic hormones and proteins into them, it could insert the gene that tells their body to make those, while a pill activates the gene only when the specific protein or hormone is needed.

Take Epogen (epoetin alfa) a well-known injectable drug that helps create more red blood cells when you're anaemic, with kidney disease or you're being treated for cancer.

What you can do, for example, is put the gene for Epogen into the body, into the muscle, and have a switching system that only allows your body to make the natural form of Epogen when you take a pill, Forbes explained.

So we don't have to make unnatural forms of these drugs because what we're doing is we're providing the body with the message to make the drug, and that message is only switched on when we give the body a pill.

MeiraGTx told Euronews Next it has already tested this technology in animals and is hoping to start trialling it on humans in 2023.

If successful, it could have huge, broad-ranging implications, Forbes said.

This isn't only for gene therapy. It allows you to control cell therapy, immuno-oncology, antibody production anything that is a protein or peptide that can be made by the body.

Many traditional drugs involve making a protein outside the body, like insulin to fight diabetes or antibodies to fight cancer. That protein is manufactured in cells or bacteria outside the body and then is injected into the body on a regular basis as a treatment.

Gene therapy, by contrast, involves putting into the body a gene encoding the therapeutic protein: rather than injecting the protein over and over and over again, you put the gene for the protein into the person and the protein is made in the person's body.

Gene therapies are typically used against inherited diseases, where a gene is missing or not functioning well. Gene therapy inserts into a patient a perfect copy of that gene to replace the missing or broken one.

So our drugs are actually genes - DNA - and they're delivered into the body by being encapsulated in viral proteins which act like a little spaceship and insert those genes that we've made into the appropriate cell, Forbes said.

This type of technology requires a very specific manufacturing process to ensure through rigorous testing that every single batch of these genes always has the same identical quality, safety and potency, she explained.

MeiraGTx controls this manufacturing in-house and has just inaugurated a new commercial-scale facility in Shannon, Ireland, thats set to employ 100 people initially and up to 300 as business grows.

The company hopes the new site will help accelerate its development and delivery of gene therapy treatments to patients with an initial focus on rare inherited disorders affecting the eye, central nervous system, and salivary gland.

But MeiraGTx argues that adding a switch to be able to fine-tune gene therapy has the potential to considerably expand this range to also tackle non-hereditary diseases that affect hundreds of millions of people worldwide, including heart disease, cancer and diabetes.

It says it could even help fight obesity, arguably one of the biggest global health challenges.

The causes behind obesity are complex and multi-faceted, genetic factors mean some people are more at risk than others, and the hormones that control appetite are very unstable and short-lasting.

A class of injectable diabetes drugs currently proving highly effective against obesity are GLP- 1 drugs, which help control blood sugar levels. But they work better in combination with several other gut peptides that affect metabolism.

The challenge, once again, is to precisely control the levels of these peptides.

MeiraGTx claims its technology may someday allow those hoping to lose weight to switch on the combination of genes that produce the hormones and peptides controlling their appetite, blood sugar levels and ultimately their fat.

We can now put the genes for three natural gut peptides that control metabolism into the body and give a pill when we want those drugs, Forbes said.

In theory, if clinical trials go well, the potential applications for other diseases are dizzying and they directly raise the question of extending human life expectancy. But that should not be the priority right now, Forbes said.

I think that currently we have really big problems with obesity, with Alzheimer's, with ways of living that mean we are young and living poorly, she said.

And these sorts of products can be used to help address those really large indications, not just the rare gene replacements.

Originally posted here:
This gene therapy company is testing new tech to 'switch off' diabetes and obesity with a pill - Euronews

CNN Travel recently published a heartwarming story about a unique world tour by Canadian couple Edith Lemay and Sebastian Pelletier and their four children. The couple wishes to give incredible moments that would enrich visual memories of their children before it is too late. Three of their childrenMia, Colin and Laurentare affected by a rare genetic condition named retinitis pigmentosawhich causes blindness over time. It is a condition that does not have a cure so far, and Lemay and Pelletiers aim is to help their children have better coping mechanisms that would prepare them for their future.

What is retinitis pigmentosa?

Retinitis pigmentosa is a condition where the cells in the retina break down slowly over time. The condition would result in vision loss. RP is caused by mutations in certain genes that control the cells that form the retina. These mutated genes are passed down from parents to children.

Symptoms of RP would typically appear in childhood itself. Loss of night vision is the most common early symptom. Children with RP may have issues adjusting to dim light and walking in darkness. The condition would cause loss of peripheral vision, too. Over time, a person with RP will have trouble seeing things out of the corners of the eyes. Eventually, they would lose this tunnel vision, too. Some others may experience loss of central vision, which would hamper their ability to do tasks such as reading or threading a needle.

RP-affected people will exhibit sensitivity to bright light and may also experience loss of colour vision. The type and speed of vision loss associated with RP would vary from person to person. Global estimates say that RP affects about one in 3,000 to one in 4,000 people. In India, the prevalence of RP is high. A study published in 2012 found that the prevalence of retinitis pigmentosa was about 1:1750 in the adult population of rural central India.

How is RP detected?

The most common method for the detection of RP is a comprehensive dilated eye exam. Here the doctor would give the patient some eye drops to widen his pupil and examine for RP. Electroretinography, optical coherence tomography and fundus autofluorescence imaging are other tests that used to detect RP.

Can RP be treated?

There is no cure for most types of RP so far. But low vision aids and rehabilitation programmes may help those with RP to manage their lives. Those with RP are advised to use sunglasses and other means to avoid exposure to too much light. Voretigene neparvovec-ryzl, a gene therapy product, is now being used to treat a specific type of RPcases in which the disease develops because of mutations in the RP65 genes. Researchers believe that advancements in gene therapy, cell therapy, and medications would bring changes in RP treatment soon.

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What's retinitis pigmentosa, a rare genetic condition that causes blindness over time - The Week

When she was younger, Daisha Dillon was told she couldnt have a baby. Or that it would be dangerous to get pregnant. That she could put her life or her babys at risk.

Dillon has sickle cell disease.

Despite the warnings, Dillon gave birth to Kinley Dillon on Aug. 19, a healthy girl who does not have sickle cell disease, although she does have one of the associated traits.

Dillon has the New England Sickle Cell Institute at UConn Health to thank, but, even more, she can be proud of her own courage and willingness to do what it took to have a baby.

They really worked with me, she said of the staff at NESCI. And to be honest, I had an amazing pregnancy. It was hard sometimes, but to sum it up altogether, I will say it was great, you know, for someone like me that has sickle cell.

On Aug. 19, Daisha Dillon gave birth to her daughter, Kinley Dillon, but it wasn't a normal pregnancy. Dillons pregnancy was high risk because she has sickle cell disease so she required blood transfusions and other measures. Her daughter does not have sickle cell. (Douglas Hook / Hartford Courant) (Douglas Hook)

Dillon said it took a lot for her to decide to become pregnant.

Growing up, I always heard since I had sickle cell I couldnt have kids, she said. It wasnt good for me to have kids. And if I did have kids I would have to have a C-section; it would send me into a pain crisis. Ive heard all this stuff.

Theyre oftentimes discouraged by their physicians as well as their family members who love them that are worried about their health to not have children, said Dr. Biree Andemariam, founder and director of NESCI, whom Dillon met when she was 17. So, you know, it takes a bit of courage and resilience to push on and have a baby despite being told that youre taking significant risks.

Dillon said she felt some fear, but she went ahead because of her lifelong dream to be a mother and because of her faith.

I know God is not going to put anything on me that I cant handle, and if I pray about things and continue to serve him, itll be fine, she said.

Kinley Dillon was born Aug. 19. Her mother, Daisha Dillon, has sickle cell disease but said she set aside her fears to reach her lifelong dream of being a mother. (Douglas Hook / Hartford Courant) (Douglas Hook)

Dillon, 32, a Manchester resident, was required to get monthly blood transfusions throughout her pregnancy, and she had to deal with the pain crises that come with the disease, as well as chronic pain.

When she needed to go to the hospital, I couldnt go to the ER; I had to go to labor and delivery because they had to watch me and the baby, Dillon said. I was automatically a high-risk pregnancy. So automatically I had to go to the doctor more frequently than anyone else.

She was also on Lovenox, a blood thinner that doesnt pass through to the placenta.

I had to shoot myself with a needle every day. Twice a day, she said.

On Aug. 19, Daisha Dillon gave birth to her daughter, Kinley Dillon, but Daishas pregnancy was high risk because she has sickle cell disease so she required blood transfusions and other measures. Her daughter does not have sickle cell. (Douglas Hook / Hartford Courant) (Douglas Hook)

While the doctors had hoped to have Dillon deliver at 37 weeks, she developed preeclampsia, so she had her C-section a couple of days early. It would have been sooner, but she had to be off the blood thinner before they could deliver Kinley.

She stayed at John Dempsey Hospital for 24 hours, and then they did the C-section the next morning, Dillon said. I had an amazing doctor who did it. She was awesome. The whole team was awesome.

September is designated Sickle Cell Disease Month in order to increase awareness of the blood disorder, which affects mostly Blacks and Hispanics but also, to a lesser extent, groups such as South Asians and those from the Mediterranean.

The disease is characterized by misshapen red blood cells, which are flat and curved, resembling a farmers sickle, larger than a normal cell. They dont carry hemoglobin well and will clog up small blood vessels, which can cause the pain crises associated with the disease.

Bone marrow transplants can cure the disease, but not many with sickle cell disease undergo the procedure, partly because of the risks, including infertility, dealing with the required chemotherapy, and because people with sickle cell can live for decades, Andemariam said.

Also, finding a donor who matches a sickle cell patient is difficult, she said. Parents often will defer the decision of having a bone marrow transplant for their child until the child can make the decision for herself, she said.

Another technique, now in clinical trials, is gene therapy, in which the patients own stem cells are edited or corrected and returned to the patient. NESCI doesnt do transplants at this point, Andemariam said, but is gearing up to do gene therapy once its approved.

On Aug. 19, Daisha Dillon gave birth to her daughter, Kinley Dillon, but it wasn't a normal pregnancy. Dillons pregnancy was high risk because she has sickle cell disease so she required blood transfusions and other measures. Her daughter does not have sickle cell. (Douglas Hook / Hartford Courant) (Douglas Hook)

Dillon said she met Andemariam in the hospital and talked to her about the specialized care NESCI could give her.

I was able to ask her all the questions that I had, and she made me feel very comfortable about going to UConn, Dillon said. So when I did come over here, I felt very comfortable. And then when I got over here, it was even better. All the nurses were great.

Genice Nelson, a doctor of nursing practice, also has been really influential in my care, Dillon said.

Andemariam said there are several risks for both the mother with sickle cell and her baby.

There can be increased complications like something called preeclampsia, increased risk of preterm delivery, increased risk of low birthweight an increased number of pain crises, an increased risk of a very serious lung complication called acute chest syndrome, an increased risk of being hospitalized during the pregnancy, Andemariam said. Death of the mother is also a risk.

For the baby, premature birth and miscarriage are the main risk factors, she said.

Dillon said the idea of not being at NESCI is scary and that she has gotten healthier to the point of not having to go to the hospital as often.

When I go to the ER now, people [say], Oh my God, its been so long, rather than before, they think, Oh, you dont feel well again, Dillon said. That feels good to put some spacing between hospitalizations and come in for regular routine doctor visits rather than come in for pain crises. Whatever were doing, its working.

She credits her caregivers at NESCI for letting her know that she would be OK, even when she had to come off a medication during her pregnancy that helped her avoid pain crises.

They told her, Im not the first person to have a baby with sickle cell, and Im not the last, she said.

Andemariam said NESCI plays an important role in caring for patients with sickle cell disease.

Research has shown us that your odds of doing well in pregnancy with underlying sickle cell disease are dramatically improved if youre receiving care at a place where you have experts in sickle cell disease and you have experts in high-risk pregnancies, Andemariam said.

And this gets to her courage, she said of Dillon. This is her resiliency. She was going to do whatever it took to get that care.

On Aug. 19, Daisha Dillon gave birth to her daughter, Kinley Dillon, but it wasn't a normal pregnancy. Dillons pregnancy was high risk because she has sickle cell disease so she required blood transfusions and other measures. Her daughter does not have sickle cell. (Douglas Hook / Hartford Courant) (Douglas Hook)

She said the center, staffed by fantastic nurses, social workers and assistants, has cared for almost 100 pregnant women, with no serious problems, offering blood transfusions, prenatal diagnostic testing and genetic counseling.

More help may be on the way, as a bill has been introduced in Congress to create a $535 million annual grant program to hospitals with sickle cell disease programs to expand services to community health and outpatient centers. Andemariam is on one of the councils that helped develop the bill.

Dillon has always wanted to be a mother, Andemariam said. She actually shares a very special relationship and bond with her own mother, Carmen, who has always been by her side and supportive of her in everything that shes done, and I can only see that Dashia will want to be able to replicate what Carmen has given to her to her own child.

Since sickle cell is individualized there are a number of variations of the disease Dillon has a written and signed pain plan that she can present to any doctor if she has a pain crisis. It spells out the best treatment for her.

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It takes the guessing game out, she said. The doctor doesnt have to ask you all of the questions. Its all written down, ABC type of things. If a doctor questions the plan, Dillons doctors phone number is there.

It reassures me and reassures the doctor that a hematologist is watching me and she knows what shes doing, Dillon said.

As for Kinley, Shes such a good baby. Honestly, I am blessed. God is so good. I prayed because I do take pain medication. I thought that she would have withdrawal symptoms from the pain medication. And she had no withdrawal symptoms. She was born a happy, healthy baby. When she wakes up she opens her eyes wide and looks at me. I know that everythings going to be OK.

Dillon said Kinleys father keeps his privacy and doesnt want to be named. She said he doesnt have sickle cell or the genetic traits. Theyre not married, but hopefully there will be an engagement soon, Dillon said.

Dillon works as care coordinator in the detox unit at InterCommunity Health Care in Hartford and is working on a masters degree in social work, hoping to work with people with substance use disorder.

Daisha, no matter how sick she has been, and she has been sick throughout her life, always perseveres, Andemariam said. She is always holding down at least two jobs. She is always taking care of herself, providing for herself. She was always a support to her family. So it doesnt surprise me that she would have the courage to take the risk to try to accomplish one of her lifelong goals, which is to be a mother.

Ed Stannard can be reached at estannard@courant.com or 860-993-8190.

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CT woman with painful, life altering disease relies on faith, 'perseveres' to have a baby - Hartford Courant

The Imperfectsarrives on Netflix on Sept. 8! Its a science fiction series following three young adults who are on the hunt to track down the mad scientist who transformed them into monsters through experimental gene therapy when they were youth.

Netflix dropped a teaser forThe Imperfects during Geeked Week, and it instantly got people pumped for the shows release. Then, on Sept. 1, the streamer released the exciting official trailer, and now everyones counting down the days until the show drops.

Fortunately, were only a day away fromThe Imperfects release on Netflix. In the meantime, weve decided to get to know the cast. While most of the cast consists of up-and-coming actors, there are also some familiar faces.

Below, we shared a cast and characters guide to whos who in the Netflix science fiction series!

The Imperfects. Italia Ricci as Dr. Sydney Burke in episode 107 of The Imperfects. Cr. Courtesy Of Netflix 2022

Italia plays the role of Dr. Syndey Burke, a gifted scientist looking to fix her past mistakes by helping Juan, Abbi, and Tilda track down the evil scientist who gave them monstrous side effects.

Where have you seen her before?

You might recognize Italia from her role as April Carver in the ABC Family television seriesChasing Life. She also had roles in the TV showsSupergirl,Designated Survivor andThe Good Doctor.

Whats next?

Its unknown what Italia will star in next, but you can catch her as Dr. Sydney Burke inThe Imperfects.

Social media:Instagram

The Imperfects. Iaki Godoy as Juan Ruiz in episode 101 of The Imperfects. Cr. Dan Power/Netflix 2022

Iaki portrays the role of Juan Ruiz, an aspiring graphic novelist who ends up being turned into a chupacabra throughDr. Alex Sarkovs experiment.

Where have you seen him before?

Iaki is best known for his roles in the television seriesLa querida del Centauro,Sin miedo a la verdadandNetflixsWho Killed Sara?

Whats next?

Well see him next in the live-action television adaptation ofOne Piece for Netflix.

Social media:Instagram

The Imperfects. Morgan Taylor Campbell as Tilda Weber in episode 103 of The Imperfects. Cr. Dan Power/Netflix 2022

Morgan plays Tilda Weber, a lead singer of a band whose dreams are crushed after she developssuper-hearing and a destructive vocal power through Dr. Alex Sarkovs experiment. She basically has powers similar to a banshee.

Where have you seen her before?

You mightve seen Morgan in the musical seriesZoeys Extraordinary Playlist and/or the comedy filmSadies Last Days on Earth. She also played Harper in the 2017 superhero filmPower Rangers.

Whats next?

Its unknown what Morgan will star in next at the moment.

Social media:Instagram

The Imperfects. Rhianna Jagpal as Abby Singh in episode 101 of The Imperfects. Cr. Dan Power/Netflix 2022

Rhianna plays Abbi Singh, a determinedgeneticist who develops abilitiesthat give her a Succubus-like control over anyone around her after undergoing Dr. Alex Sarkovs experiment.

Where have you seen her before?

Rhianna is known for her roles in the teen rom-comTo All the Boys: Always and Forever,the sci-fi seriesMotherland: Fort Salem and the anthology seriesTwo Sentence Horror Stories.

Whats next?

Rhiannas following projects are unknown at the moment.

Social media:Instagram

The Imperfects. Rhys Nicholson as Dr. Alex Sarkov in episode 101 of The Imperfects. Cr. Dan Power/Netflix 2022

Rhys portrays the role of Dr. Alex Sarkov, an evil scientist whose goal is torewrite the human genome and bring about the next stage of human evolution. He experimented on Juan, Abbi, and Tilda and turned them intomonster-human mutants.

Where have you seen them before?

You might recognize Rhys as a judge onRuPauls Drag Race Down Under.

Whats next?

You can catch Rhys in season 2 ofRuPauls Drag Race Down Under.

Social media:Instagram

The Imperfects. Kyra Zagorsky as Finch in episode 103 of The Imperfects. Cr. Courtesy Of Netflix 2022

Kyra plays Isabel Finch, a woman who wants to track down Dr. Alex Sarkov for her own reasons. However, if she finds Dr. Alex Sarkov before Juan, Abbi, and Tilda do, they might not be able to become human again.

Where have you seen her before?

You might know Kyra from her roles in the TV showsContinuum,Helix,ArrowandThe 100.

Whats next?

Its unknown what projects Kyra will star in next.

Social media:Twitter

The Imperfects. Celina Martin as Hannah in episode 110 of The Imperfects. Cr. Courtesy Of Netflix 2022

Celina portrays the role of Hannah Moore, a woman who also underwent Dr. Alex Sarkovs experimental gene therapy. Hannah has a hard time balancing helping Juan, Tilda, and Abbi while also assisting Isabel Finch.

Where have you seen her before?

Celina is known for her roles in the television seriesThe Other Kingdom and the dystopian thrillerLevel 16.

Whats next?

She doesnt have any upcoming projects at the moment.

Social media:Instagram

The Imperfectslands on Netflix on Sept. 8 at 12:00 a.m. PT/3:00 a.m. ET!

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The Imperfects cast guide: Whos who in the Netflix sci-fi series? - Netflix Life

This as-told-to essay is based on a conversation with Helena McCabe, the 34-year-old founder of The TBCD Foundation from Gotha, Florida. It has been edited for length and clarity.

Three days. That's how long I gave myself to grieve before I got into action. Getting a terminal diagnosis for my 16-month-old son was, hands down, the worst day of my life but I've never been a quitter.

If you talk to my friends, they'll tell you I'm the person to call when you're getting the runaround and need someone to get things done. Fiery, committed, and loyal, there was no way that I was going to concede and watch my son die.

Max was diagnosed with a TBCD tubulin folding cofactor D gene mutation, an ultrarare genetic-neurological condition, two days before Thanksgiving in 2021. He was 16 months old then, and he's 2 years old now. It's like ALS for babies, and affects his ability to walk and talk. Kids with TBCD mutations usually lose all purposeful movement and vision by the age of 4, and the average lifespan is under five years.

TBCD is referred to as an orphan disease. The medical community often uses this term to describe a disease so rare that the medical and pharmacological industries have given up researching treatments because not enough people experience it for there to be a profit margin.

There are currently about 20 children in the world diagnosed with TBCD; since we've begun awareness campaigns with other TBCD families, other families with children who have been misdiagnosed with things like cerebral palsy are discovering that they actually have TBCD but the number of people diagnosed and still alive is unlikely to have broken 30.

That means it might be more common than originally thought, and because the gene is not included in standard prenatal-genetic testing and diagnosis tests, people have no way to know if they're carriers without specifically testing for it.

Before my husband and I conceived, we had our genetics tested because cystic fibrosis runs in his family. The doctor gave us the green light as far as that was concerned; we were good to go. Because TBCD is so rare, screening for it is not included in standard genetic testing and we came to find out both of us are carriers. Our neurologist said that it's so rare, we would have had better odds winning the lottery twice, which obviously would have been better.

When my husband and I talked about what we were going to do, we decided to go all-in on helping all kids with TBCD and started The TBCD Foundation, which is dedicated to raising funds for research.

Several families with children who had TBCD did not jump on board the way I thought they would. For some people, it's more painful to hope than it is to deal with the anticipatory grief. Most parents don't even get a second opinion when their child receives a terminal diagnosis. But we did find two other mothers who were happy to help.

Between the three of us, we emailed thousands of researchers. We emailed everyone who might be able to do anything; any researcher who had written a paper on it or worked on something similar. Each time, we were met with the same response different variations of "no."

Without funding, and given that TBCD is an orphan disease, no one wanted to touch it. That was until we heard from Dr. Allison Bradbury, an assistant professor in the Department of Pediatrics at Ohio State College of Medicine and a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute.

After seeing Landon one of the other children from the TBCD Foundation on the news in January 2022, Bradbury reached out to us. She let us know that she wanted to help. Her work focuses on research and therapy development in the field of rare pediatric-neurodegenerative disorders, and she was willing to talk.

Ever since Bradbury came on board to help us with the research, we've learned a lot about the disease and how it affects every patient differently. For example, now I know that where the mutation lies on the gene dictates how quickly the disease will affect the person.

Max is one of the luckier patients, as his mutation is all the way at the back of the gene. That means he may have more wax in his proverbial candle than some other children diagnosed with TBCD, but with the progressively debilitating disease threatening his eyesight, the few words he's able to say, and his movements growing more compromised with each passing day, we don't have time to waste.

We're going through the first level of the research, and so far, we have promising results. Bradbury is using a technique proven successful in other rare genetic conditions that replaces the broken DNA with a healthy copy. The faster we can utilize this therapy, the more lives we can save and the higher quality of life we can preserve for Max and other patients.

It's going to take $2,000,000 for us to get to clinical trials for Max and the other kids with TBCD. These clinical trials have the potential to save his and the other kids' lives. While there are no guarantees, this is the best hope Max and these kids have for a healthier, happier life.

When Max was diagnosed, I realized I had a choice: accept it, or fight like hell. Instead of sitting, sobbing, and watching my baby boy die, I'm fighting for his life with all I have. My goal isn't for Max to have a normal life, but for him to have a happy one. And that is possible if we can get the funding for this research.

More here:
My son has a rare terminal genetic disorder called TBCD - Insider

IRVINE, Calif. & BASEL, Switzerland(BUSINESS WIRE)Great Place to Work and Fortune magazine have named Urovant Sciences as one of the 2022 Best Workplaces in BioPharma. This is Urovants first time being named to this prestigious list, this year coming in at 17th place. Earning a spot means that Urovant is one of the best biopharma companies to work for in the country.

The Best Workplaces in BioPharma award is based on analysis of survey responses from more than 36,000 employees from Great Place to Work-Certified companies in the biopharma industry. In that survey, 89% of Urovants employees said Urovant is a great place to work. This number is 32% higher than the average U.S. company.

Its an honor to be recognized by Fortune and Great Place to Work, said James Robinson, CEO of Urovant Sciences. We like to say we are Powered by People and Possibilities. Developing a diverse, welcoming, and action-oriented culture has been and continues to be a priority at Urovant. This allows us to advance patient care through our culture with values of integrity and compassion, bold innovation through inclusion, and achievement through collaboration.

The Fortune Best Workplaces in BioPharma list is highly competitive. Great Place to Work, the global authority on workplace culture, selected the list using rigorous analytics and confidential employee feedback. Companies were considered if they are a Great Place to Work-Certified organization.

Great Place to Work is the only company culture award in America that selects winners based on how fairly employees are treated. Companies are assessed on how well they are creating a great employee experience that cuts across race, gender, age, disability status, or any aspect of who employees are or what their role is.

It is our honor to spotlight the Best Workplaces in BioPharma, said Michael C. Bush, CEO of Great Place to Work. We applaud their commitment to inclusive, high-trust cultures.

In addition to becoming a certified Great Place to Work earlier this year, Urovant was named one of the Best Places to Work for the second year in a row by the Orange County Business Journal.

About Urovant Sciences

Urovant Sciences is a biopharmaceutical company focused on developing and commercializing innovative therapies for areas of unmet need, with a dedicated focus in urology. The Companys lead product, GEMTESA(vibegron), is an oral, once-daily (75 mg) small molecule beta-3 agonist for the treatment of adult patients with overactive bladder (OAB) with symptoms of urge urinary incontinence, urgency, and urinary frequency. GEMTESA was approved by the U.S. FDA in December 2020 and launched in the U.S. in April 2021. GEMTESA is also being evaluated for the treatment of OAB in men with benign prostatic hyperplasia. The Companys second product candidate, URO-902, is a novel gene therapy being developed for patients with OAB who have failed oral pharmacologic therapy. Urovant Sciences, a wholly-owned subsidiary of Sumitovant Biopharma Ltd., intends to bring innovation to patients in need in urology and other areas of unmet need. Learn more about Urovant at http://www.Urovant.com or follow on Twitter, LinkedIn or Instagram.

About Sumitovant Biopharma

Sumitovant is a technology-driven biopharmaceutical company accelerating development of new potential therapies for patients with high unmet medical need. Through our subsidiary portfolio and use of embedded computational technology platforms to generate business and scientific insights, Sumitovant has supported development of FDA-approved products and advanced a promising pipeline of early-through late-stage investigational assets for other serious conditions. Sumitovants subsidiary portfolio includes wholly-owned Enzyvant, Urovant, Spirovant, and Altavant, and one majority-owned subsidiary that is publicly listed: Myovant (NYSE: MYOV). Sumitomo Pharma is Sumitovants parent company. For more information, please visit http://www.sumitovant.com.

About Best Workplaces in BioPharma

Great Place to Work selected the Best Workplaces in BioPharma by gathering and analyzing confidential survey responses from more than 36,000 employees at Great Place to Work-Certified organizations in the biopharma industry. Company rankings are derived from 60 employee experience questions within the Great Place to Work Trust Index survey. Great Place to Work determines its lists using its proprietary For All methodology to evaluate and certify thousands of organizations in Americas largest ongoing annual workforce study, based on over 1 million survey responses and data from companies representing more than 6.1 million employees, this year alone. Read the full methodology.

About Great Place to Work

Great Place to Work is the global authority on workplace culture. Since 1992, they have surveyed more than 100 million employees worldwide and used those deep insights to define what makes a great workplace: trust. Their employee survey platform empowers leaders with the feedback, real-time reporting and insights they need to make data-driven people decisions. Everything they do is driven by the mission to build a better world by helping every organization become a great place to work For All.

Learn more at greatplacetowork.com and on LinkedIn, Twitter, Facebook and Instagram.

About Overactive Bladder

Overactive bladder (OAB) is a clinical condition that occurs when the bladder muscle contracts involuntarily. Symptoms may include urinary urgency (the sudden urge to urinate that is difficult to control), urgency incontinence (unintentional loss of urine immediately after an urgent need to urinate), frequent urination (usually eight or more times in 24 hours), and nocturia (waking up more than two times in the night to urinate).1

Approximately 30 million Americans suffer from bothersome symptoms of OAB, which can have a significant impairment on a patients day-to-day activities.1, 2

About GEMTESA

GEMTESA is a prescription medicine for adults used to treat the following symptoms due to a condition called overactive bladder:

It is not known if GEMTESA is safe and effective in children.

IMPORTANT SAFETY INFORMATION

Do not take GEMTESA if you are allergic to vibegron or any of the ingredients in GEMTESA.

Before you take GEMTESA, tell your doctor about all your medical conditions, including if you have liver problems; have kidney problems; have trouble emptying your bladder or you have a weak urine stream; take medicines that contain digoxin; are pregnant or plan to become pregnant (it is not known if GEMTESA will harm your unborn baby; talk to your doctor if you are pregnant or plan to become pregnant); are breastfeeding or plan to breastfeed (it is not known if GEMTESA passes into your breast milk; talk to your doctor about the best way to feed your baby if you take GEMTESA).

Tell your doctor about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Know the medicines you take. Keep a list of them to show your doctor and pharmacist when you get a new medicine.

What are the possible side effects of GEMTESA?

GEMTESA may cause serious side effects, including the inability to empty your bladder (urinary retention). GEMTESA may increase your chances of not being able to empty your bladder, especially if you have bladder outlet obstruction or take other medicines for treatment of overactive bladder. Tell your doctor right away if you are unable to empty your bladder. The most common side effects of GEMTESA include headache, urinary tract infection, nasal congestion, sore throat or runny nose, diarrhea, nausea, and upper respiratory tract infection. These are not all the possible side effects of GEMTESA. For more information, ask your doctor or pharmacist.

Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.

Please click here for full Product Information for GEMTESA.

UROVANT, UROVANT SCIENCES, the UROVANT SCIENCES logo and Powered by People and Possibilities are trademarks of Urovant Sciences GmbH, registered in the U.S. and in other countries. All other trademarks are the property of their respective owners. 2022 Urovant Sciences. All rights reserved.

From Fortune. 2022 Fortune Media IP Limited. All rights reserved. Used under license.

Contacts

Urovant Sciences

Alana Darden Powell

Vice President, Corporate Communications

949-436-3116

alana.darden@Urovant.commedia@urovant.com

Sumitovant BiopharmaMaya Frutiger

VP, Head of Corporate Communications

media@sumitovant.com

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Urovant Sciences Named 17th on the List of Fortune Best Workplaces in BioPharma (2022) - - Portada-online.com

A new gene therapy has offered hope for a cure for hemophilia B patients.

The results of an early clinical trial were published in the New England Journal of Medicine on Wednesday.

The 26-week trial took place in 2020. By its end, nine of 10 patients that received the one-off treatment no longer needed regular injections to treat the condition.

The treatment is still in very early stages of development and ten people is a small sample size. But a doctor who developed the treatment was optimistic about its wider potential, saying that it could cure most adults with hemophilia B within three years, per the BBC.

A patient association described the results as encouraging but said that more research was needed before using it more widely. Experts on chronic conditions are often wary of talking about "cures" in their early stages for fear of giving false hope.

Hemophilia B is a genetic condition that affects blood clotting. It means people with the condition will bleed for longer. In severe cases, it can cause spontaneous bleeding into the organs and joints.

To counteract these effects, patients are given regular injections of material to help their blood clot, a cumbersome process.

Elliot Mason, a patient in the trial, told the BBC he felt like he grew up "anxious of getting hurt." At one point, he had to receive an injection every other day, the BBC reported.

Mason received the treatment as part of the clinical trial. He said he hasn't needed an injection since and has taken up skiing and motorbiking.

"My life is completely normal, there's nothing that I have to stop and think 'how might my haemophilia affect this?'," he told the BBC.

"It's all a miracle really, well it's science, but it feels quite miraculous to me," he said.

The treatment works by delivering several copies of the gene that codes for the clotting factor to liver cells. It gives the body the blueprints to make the protein itself instead of needing it from an external source.

The theory is that a single injection of the gene treatment could treat the condition for years or decades. Receiving the treatment took about an hour, Mason told the BBC.

Trial participants received doses of varying strengths alongside immunosuppressants.

Per the trial results, five of the ten patients had normal levels of blood-clotting material after the treatment. Three had increased levels, but still less than what is considered normal.

One had abnormally high levels of factor IX which led to the development of a blood clot, per the New England Journal. One patient saw his levels decrease over the 26 weeks and had to resume injections.

Prof Pratima Chowdary, a hematologist at the Royal Free Hospital and University College London and lead author on the study, told the BBC she thought most adults with hemophilia B could be cured within three years.

"Removing the need for hemophilia patients to regularly inject themselves with the missing protein is an important step in improving their quality of life," Chowdary said in a press release.

Clive Smith, chairman of the UK-based patient association Haemophilia Society, was more cautious: "This initial data is promising, but we continue to monitor gene therapy trials closely and cautiously, as with all new treatments," the BBC reported.

The trial participants agreed to be followed for another 15 years to check on how long the treatment would last and to monitor potential effects that may emerge later, according to an accompanying press release.

The treatment was not been tested on children, whose livers are still developing until age 12, per the BBC.

The next step in pharmaceutical product development is typically to test the product on a wider set of people in what is known as a Phase III trial.

The rest is here:
Hemophilia B: Gene Therapy May Offer Cure for Many, Doctor Says

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The genes in your bodys cells play a key role in your health. Indeed, a defective gene or genes can make you sick.

Recognizing this, scientists have worked for decades on ways to modify genes or replace faulty genes with healthy ones to treat, cure, or prevent a disease or medical condition.

This research is paying off, as advancements in science and technology today are changing the way we define disease, develop drugs, and prescribe treatments.

The U.S. Food and Drug Administration has approved multiple gene therapy products for cancer and rare disease indications.

Genes and cells are intimately related. Within the cells of our bodies, there are thousands of genes that provide the information to produce specific proteins that help make up the cells. Cells are the basic building blocks of all living things; the human body is composed of trillions of them.

The genes provide the information that makes different cells do different things. Groups of many cells make up the tissues and organs of the body, including muscles, bones, and blood. The tissues and organs in turn support all our bodys functions.

Sometimes the whole or part of a gene is defective or missing from birth. This is typically referred to as a genetically inherited mutation.

In addition, healthy genes can change (mutate) over the course of our lives. These acquired mutations can be caused by environmental exposures. The good news is that most of these genetic changes (mutations) do not cause disease. But some inherited and acquired mutations can cause developmental disorders, neurological diseases, and cancer.

Depending on what is wrong, scientists can do one of several things in gene therapy:

To insert new genes directly into cells, scientists use a vehicle called a vector. Vectors are genetically engineered to deliver the necessary genes for treating the disease.

Vectors need to be able to efficiently deliver genetic material into cells, and there are different kinds of vectors. Viruses are currently the most commonly used vectors in gene therapies because they have a natural ability to deliver genetic material into cells. Before a virus can be used to carry therapeutic genes into human cells, it is modified to remove its ability to cause infectious disease.

Gene therapy can be used to modify cells inside or outside the body.When a gene therapy is used to modify cells inside the body, a doctor will inject the vector carrying the gene directly into the patient.

When gene therapy is used to modify cells outside the body, doctors take blood, bone marrow, or another tissue, and separate out specific cell types in the lab. The vector containing the desired gene is introduced into these cells. The cells are later injected into the patient, where the new gene is used to produce the desired effect.

Before a gene therapy can be marketed for use in humans, the product must be tested in clinical studies for safety and effectiveness so FDA scientists can consider whether the risks of the therapy are acceptable considering the potential benefits.

The scientific field for gene therapy products is fast-paced and rapidly evolving ushering in a new approach to the treatment of vision loss, cancer, and other serious and rare diseases. As scientists continue to make great strides in this therapy, the FDA is committed to helping speed up development by interacting with those developing products and through prompt review of groundbreaking treatments that have the potential to save lives.

Read more here:
How Gene Therapy Can Cure or Treat Diseases | FDA

Biree Andemariam, MD: There are several factors that impact availability of therapeutic options for individuals with sickle cell disease [SCD]. No. 1 is that, until recently, weve had just very few therapeutic options. Until 2017, we only had 1 FDA [Food and Drug Administration]-approved drug for [SCD], that being hydroxyurea. And then in 2017, we had our second drug approved, L-glutamine. Then in November 2019, we had 2 drugs FDA approved: voxelotor and crizanlizumab. Although were living in a time of accelerated discovery and approvals, we have a long way to go. We are embarking on a time when we have a lot of clinical trial investigations of a lot of different therapies that are targeting many different pathophysiological pathways associated with [SCD] and [SCD]-related complications. There are sort of 2 buckets of approaches. [One approach is] to ameliorate the disease to, for example, reduce the amount of pain individuals experience [and] reduce the degree of anemia they live with.

The other bucket is treatments [with] curative intent, such as the different gene therapy strategies. Were looking at disease modification [and] potentially curative options in an investigational fashion right now, which is super exciting. Im hoping that as the years progress, well have an exponential growth of new available treatments. One issue patients contend with is just not having a lot of therapeutic options. But [another issue that] may be more devastating and more important is not having access to physicians who either have the expertise or desire to care for individuals living with [SCD]. Thus, if we dont fix that problem, which is improving access to specialists with knowledge on how to take care of individuals with [SCD], it doesnt matter how many new drugs we bring to the market, because we need [individuals who] are knowledgeable about the disease to be able to prescribe these new therapies [and] monitor patients for complications to prolong their survival. [Thus, this is a] 2-pronged approach to improving access to care for individuals living with [SCD]: new drugs and more specialists.

When I initiate conversations with my patients about their therapeutic optionsI think its important to understand that even though individuals with [SCD] share a common mutation that gives rise to their disease, the phenotypic manifestations of the disease [and] the individual impact of the disease on the 1 particular patient can vary. Its important to take a patient-specific approach when talking about therapies with patients. Thats how I approach my patients. Not everybodys the same, not everybodys had the same shared, lived experience with [SCD]. There are some patients whose major manifestation of disease are painful crises, and thats their focus. Their focus is to reduce the number of pain episodes they experience, to reduce the number of times they end up in an emergency department or [are] hospitalized. For many patients, thats their goal. For some patients, they dont experience as many pain crises, but they have profound fatigue, have had a stroke and are trying to prevent another stroke, or they have complications such as skin ulcers or priapism episodes. There are some patients who have recurrent manifestations of the acute chest syndrome and end up in the [intensive care unit], intubated and fighting for their lives. And they never want to experience that again.

Every patient has a different manifestation of their [SCD], and when I sit down with a particular patient, [I try] to talk about how their [SCD] affects them. We talk about how it affects them clinically and how it affects them in their everyday lives, their functioning, [and] their quality of life. Are they meeting their lifes goals? What would need to be done in terms of their [SCD] treatment to try to get them toward meeting their lifes goals? Luckily, we now have therapies available that do target some of these key manifestations that are problematic or bothersome to patients. We have 3 drugs that have been approved to reduce pain crisis episodes: hydroxyurea, L-glutamine, and crizanlizumab. And we have 1 drug thats been approved that increases the hemoglobin level by decreasing the hemolytic rate. Improving anemia [and] reducing pain episodes are things that are important to patients, and these are the things I discuss with them.

Wally R. Smith, MD: The therapeutic options associated with [SCD] care were quite limited until [approximately] 15 years ago. At the time, we had very little to offer. We had 1 drug, hydroxyurea, which was approved in 1998 after [many] years of study. We had oxygen [as well as] fluids to try to decrease the concentration of hemoglobin S inside the cell and to keep up with losses via the kidney, [as well as] insensible losses. We [also] had palliative care in the form of opioids and other analgesics for patients who came to the hospital. Until [recently], we werent doing many curative therapies [or] bone marrow transplantations, and we had no other drugs to offer. In 2017, that all changed; we got our second drug. In 2019, we got 2 more drugs approved. Now there are 40, if you will, drugs in the pipeline, all intending on getting approved for patients with [SCD]. Now there is gene therapy to add to bone marrow transplantation as a viable therapeutic option under experimental protocol. Thus, now when a patient comes in and says, What can you do for my [SCD]? we answer that completely different than we did 15 years ago. It is now [approximately] an hour-long conversation to walk through those 4 drugs.

They [have] very different mechanisms of actions [and] [adverse] effect profiles. [The] logic about how to decide which drug to take is not very well worked out. There is no such thing as this drug is best for this kind of patient in my mind. We tell them about each of the drugs. We let them make some choices based on their likelihood of taking them, because sometimes taking the drug is just as much of a problem as prescribing the drug, especially if you dont get a benefit immediately. [There is] no problem taking opioids because you get a pain benefit immediately. [There is a] big problem taking hydroxyurea, the first drug thats available, or even taking the newer drugs that have been approved. Thus, we try to explain it to patients. We even talk to them about curative options. Some of them want to go through with it. Some of them do not because all curative options, at this point, require chemotherapy, a long wait, and a lot of hospital visits and patient visits to the doctor. Thats a turnoff for a lot of patients. We dont just go through a single visit to help [patients] decide what to do therapeutically; we take them through the process and give them time to think, then ask them to either call us or come back and let us know what they want to do because these are lifetime commitments they are making.

Transcript edited for clarity

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Approaching Therapy for Patients With SCD - MD Magazine

When I dont know how to do something, Im the type of person to go figure it out. YouTube has taught me skills ranging from fixing a leaky faucet to trail running. My wife and I applied the same method when it came to speech therapy training.

Speech seemed like a distant goal for our daughter, Rylae-Ann, who has aromatic l-amino acid decarboxylase (AADC) deficiency. This is because AADC deficiency causes more severe symptoms that take precedence. However, we tried our best to work on speech when we had time. Thankfully, my wife is a special education teacher and has some training, but even she was at a loss in terms of developing a treatment plan for our daughters unique case.

When Rylae-Ann was diagnosed at 8 months old, we knew she would have speech problems. We wanted to meet this challenge head-on and begin early intervention. We sought outside assistance at speech therapy clinics, but the doctor told us that Rylae-Ann was still developing, and therefore too young to receive treatment.

It seemed like we were being told to wait until there was a more significant problem before proceeding. This method did not sit well with us, and there was no way we would sit idly by. We found many helpful videos on YouTube, but one led us to a specific form of speech therapy called oral placement therapy, or OPT.

There was no speech intervention guide for AADC deficiency, so we also connected with other rare disease support groups and researched programs that supported cases involving similar symptoms and challenges as our daughter. OPT was mentioned within the groups and seemed like a perfect match.

OPT is a speech therapy approach that combines visual, auditory, and tactile stimulation to improve speech and feeding skills. It focuses on all the muscles involved in speech, not just the mouth.

What caught our attention about this program was that it looks at early intervention and offers treatment to young children before they have speech problems. This is exactly what we were looking for.

We visited the website of TalkTools, an organization that provides resources and training for oral motor placement therapy, and appreciated all of the helpful information, much of it free of charge. The site also links to a directory of licensed OPT speech therapists around the world. It encouraged us to take things a step further by enrolling in a program and completing their training courses.

We wanted to learn and apply the strategies directly. The courses arent free, and we also needed to pay for equipment sold separately. But doing so empowered us to confidently provide treatment for Rylae-Ann at home. This, combined with our other therapies, led to noticeable improvements by our daughter.

While completing oral placement therapy training, Richard and his wife, Judy, began using the assigned tools with their daughter, Rylae-Ann. (Courtesy of Richard E. Poulin III)

TalkTools was founded by Sara Rosenfeld-Johnson, an internationally recognized speech and language pathologist. She also was the teacher for our course.

Rosenfeld-Johnson began our first class by sharing a story about a baby with Down syndrome. The baby was experiencing feeding difficulties but was not receiving speech therapy intervention due to young age. Rosenfeld-Johnson was surprised about this and felt action should be happening from birth, especially when it was known that the child would have speech difficulties later. This story felt almost identical to what my wife and I had experienced.

In a 1997 article in Advance Magazine,titledThe Oral-Motor Myths of Down Syndrome, Rosenfeld-Johnson explained how the facial features of a child with Down syndrome are not a symptom of the disease but a manifestation of not taking early action, and therefore allowing the body to develop the characteristic myths of Down syndrome. The stereotypical characteristics were not apparent in the cases she had worked with, because OPT uses an early intervention and prevention approach.

The goal of OPT is to prevent the symptoms from occurring in the first year of life. So, although children cannot yet speak, speech therapy is used. OPT relies on understanding the mechanics and physiology of the mouth to achieve certain goals. These goals may be initially related to sucking and feeding, but the same muscles are used for speech.

We began when Rylae-Ann was 8 months old, but it should have started when she was born. By beginning sooner, mothers of newborns with AADC deficiency can experience successful breastfeeding, which leads to improved feeding for toddlers. They wouldnt have to worry about weight gain or providing their child with a feeding tube. Eventually, speech has a greater likelihood of happening.

Rylae-Ann improved her feeding due to oral placement therapy, which eventually led to speech. (Courtesy of Richard E. Poulin III)

Another reason we believed OPT was the best match for our daughter is because it aids several special needs cases, including Down syndrome, cerebral palsy, autism spectrum disorder, attention-deficit/hyperactivity disorder, and those with motor-sensory impairments. This list featured similar challenges faced by our daughter. In addition, the multisensory approach aligned with our experience with early education and learning support curriculums.

Special needs children benefit from tactile and proprioceptive components, which are very different from traditional speech therapy. In special education, educators use a similar technique of combining multiple senses and learning styles to reach individual children. So while we were working on speech, we also improved her senses, overall articular awareness, placement, stability, and muscle memory.

The results for us began slowly, but we did not rush the sequence. Rylae-Anns first milestone was allowing us to use the tools in and around her mouth to help her build muscle awareness. Her sensory processing issues did not make this an easy task, but she did it.

Then, she quickly learned to drink from a straw and blow bubbles. This was a huge leap, and the progress continued.

After she had gene therapy, the progress was even quicker, which I believe was due to early intervention with OPT speech therapy.

Success with this method strengthened our resolve to support our daughter and other parents who want to do the same with their children. Oral placement therapy is one component of speech and language. To maximize results, it should be led by a licensed therapist and not done in isolation. All paramedical therapies work together to allow a child to make the most significant progress possible. As always, consult your healthcare team before making any treatment or therapy decisions.

Thanks to Rylae-Anns dedication and hard work during speech therapy, she is able to eat independently while talking with her friends at lunch. (Courtesy of Richard E. Poulin III)

Note:AADC Newsis strictly a news and information website about the disease. It does not provide medical advice,diagnosis, ortreatment. This content is not intended to be a substitute for professional medical advice,diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those ofAADC Newsor its parent company, BioNews, and are intended to spark discussion about issues pertaining toaromatic l-amino acid decarboxylase deficiency.

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Why We Chose Oral Placement Therapy to Address AADC Deficiency... - AADC News

In 1990, internal medicine specialist Dr. Dean Ornish did what no other doctor had been able to do: He published results of a randomized clinical trial that used advanced imagery scans to show coronary artery disease could be reversed with nothing more than diet, exercise, stress reduction and social support.

I think our unique contribution has been to use these very high-tech, expensive, state-of-the-art scientific measures to prove how powerful these very low-tech and low-cost interventions can be, says Ornish, a professor of medicine at the University of California, San Francisco.

Today, Ornish is trying to do for the brain what he did for the heart. At his nonprofit Preventive Medicine Research Institute in Sausalito, hes using the same four lifestyle interventions to see if early-stage Alzheimers can be slowed, stopped or even reversed without the use of drugs, devices or surgeries.

Whats good for your heart is good for your brain and vice versa, Ornish says. Prior studies have shown moderate changes in lifestyle can slow the rate of progression of dementia and Alzheimers. So, my hypothesis is that more intense lifestyle changes could stop or even reverse the decline.

The original study on heart disease was small 28 people were in the experimental group Ornish then followed for five years. Some skeptics criticized the program for its small sample size and said there was no way people could remain on the programs stringent plant-based diet without supervision.

In the Ornish meal plan, no more than 10% of ones daily calories can come from fat. To accomplish that, all animal products besides egg whites and one cup of nonfat milk or yogurt each day are banned. (This doesnt apply to the Alzheimers study.) Whole grains, fruits, vegetables and legumes are the basis of the diet, along with a few nuts and seeds. Refined carbohydrates, oils and excessive caffeine are avoided, but up to two cups a day of green tea are allowed.

Its low-fat, but thats just a small part of the overall diet, Ornish says. Its essentially a vegan diet, low in fat and sugar, eating foods as close as possible to nature.

The program also includes an hour a day of yoga-based stress management using stretching, breathing, meditation and relaxation techniques. Strength training and walking or other aerobic exercise are required for 30 minutes a day or an hour three times a week. Smoking is not allowed.

There are also support groups, Ornish told CNN, not just helping people stay on the diet but creating a safe environment where people can let down their emotional defenses and talk openly and authentically about whats really going on in their lives, warts and all.

That was the part that surprised me the most these support groups are really intimate, he adds. Sharing things like I may look like the perfect father, but my kids are on heroin, or whatever. Even by Zoom, theyre getting to the same level of intimacy within one or two sessions because theres such a hunger for that.

Ornish calls that part of his program Love More. He answers skeptics who wonder why intimacy is such an integral part of a plan to reverse disease by pointing to studies on people who are lonely, depressed or isolated.

RODNAE Productions/Pexels

Those people are three to 10 times more likely to get sick and die prematurely from pretty much everything when compared with people who say they have a sense of love, connection and community, Ornish maintains.

Why? In part because youre more likely to smoke, overeat, stop exercising and other unhealthy things when youre feeling lonely and depressed, Ornish said.

By 1993, insurance giant Mutual of Omaha began reimbursing policyholders for the cost of Ornishs program, making it the first alternative therapy besides chiropractic to win insurance reimbursement. Medicare began covering lifestyle interventions for heart disease in 2006.

And in October 2021 Medicare agreed to cover my reversing heart disease program when its done via Zoom, which is really a game changer, Ornish says. Now we can reach people at home, in rural areas and food deserts wherever they live, which will help reduce health inequities and health disparities.

In the last two decades, Ornishs research has shown the same four-part program can lower blood sugars and heart disease risk for patients with diabetes, reduce prostate cancer cell growth, improve depression within 12 weeks, reduce bad cholesterol by an average of 40%, and more.

With all this interest in personalized medicine, just how is it that these same lifestyle changes stop, and often reverse, the progression of such a wide spectrum of the most common and costly chronic diseases? Ornish asks.

Because they all share the same underlying biological mechanisms: chronic inflammation, oxidative stress, changes in the microbiome, changes in gene expression, overstimulation of the sympathetic nervous system, changes in immune function and so on, he says.

And in turn, each one of these is directly influenced by what we eat, how we respond to stress, how much exercise we get and how much love and support we have, Ornish says.

Those lifestyle improvements likely change the body at a cellular level, he said. A 2008 study found the Ornish program affected some 500 genes in the body via epigenetics, chemical reactions that can activate or dismantle how a gene is expressed.

After just three months on the Ornish lifestyle program, the research found a number of genes that regulate or prevent disease are turned on, and genes that cause many of the mechanisms that cause all these different conditions are turned off, Ornish says.

Youre not technically changing your genes, but youre changing the expression of those genes with chemical switches, turning them on or off, he said. So, that means its no longer all in our genes, making us victims of our genetic fate. Were not victims. Theres a lot we can do.

Lengthening telomeres

Ornish lifestyle interventions have also been shown to lengthen telomeres, the tips of chromosomes that control longevity and shorten as we age. Ornish did a 2013 pilot study with UC San Francisco biochemist Elizabeth Blackburn, who won the 2009 Nobel Prize in physiology or medicine for her work on telomeres.

We found that telomerase, the enzyme that repairs and lengthens telomeres, increased by 30% after just three months on the program, Ornish says. Then we found that people who had been on the program for five years had telomeres that were about 10% longer, a sign that aging is being reversed on the cellular level.

Will these same lifestyle interventions be enough to slow or even reverse cognitive decline in Alzheimers and other dementias? Time will tell. Ornishs study is still underway and all the data must be gathered, analyzed and peer-reviewed before an outcome can be reported.

But I believe that its not one diet and lifestyle intervention for heart disease, another for diabetes or prostate cancer, and yet a different one for Alzheimers. Its really the same for all these different conditions, Ornish told CNN.

To reverse the disease, you need to follow the interventions nearly 100%. If youre just trying to prevent disease, then the more you change, the more you improve. But what matters most is your overall way of eating, living and loving so that we can all die young as old as possible.

Read more from the original source:
This Sausalito doctor reversed heart disease. Can he do it for Alzheimers? - Marin Independent Journal

cutting-edge technologies such as big Data Or artificial intelligence applied to medicine has the potential to revolutionize how we take care of our health. Proof of this is the exponential growth of companies dedicated to innovation deep technology In the health sector: in 2021 alone, start-up Digital Medicine received approximately $31,000 million in venture capital worldwide (approximately 30,100 million euros), an increase of 68% over the previous year.

In this scenario of glut, investment funds provide a significant boost to the ecosystem. Daniel Oliver, director of Capital Cell, a crowdfunding platform specializing in biomedicine, and a partner at Nara Capital, a new investment firm focused on biotech and medical technology that is preparing to launch a fund that does well knows. With their hands on, and listening to the testimony of entrepreneur Esther Rodriguez Villegas, we explore the past and future of entrepreneurship in healthcare technology deep in the podcast. future constantfeatured by MIT Technology Review In Spanish in collaboration with MAPFRE. You can listen to his interview starting at 23 minutes.

The following interview has been edited for length and clarity.

In your opinion, what can professional investors bring? start upBeyond financing, what else would you like to contribute with Nara Capital?

An investment fund, unlike a bank, is always someone who either has a lot of contacts or has very specific knowledge in the very specific areas they want to contribute to the companies. The mission of an investment fund is to make money, but through an activity with a certain impact. In our case, we want to see how companies develop healthcare disruptive technologies that can change the way we go to the doctor, heal the sick, or prevent diseases.

Our mission is to identify technologies and tools that can do this and support them in any way they can. With money, of course, financial resources hinge on the rest; But we can also help them strategically. We have seen the trajectories of many companies and we know how to plan various investment rounds, personnel recruitment, development We are particularly good at clinical development issues, and we do a necessary process. These technologies can be of great help in planning: being able to demonstrate with data that it is indeed capable of improving patients lives, simplifying the process, and saving money.

We want to see how companies develop with disruptive technologies that could change how we go to the doctor or prevent diseases

Nara Capital has so far invested in three projects. Which company profile are you looking for and what market opportunities do you see as most interesting?

We want to focus above all on companies that are at least a few steps ahead of executing projects that are ahead in the market. We want to invest in biotechnology, but also in the next generation of biotechnology: gene therapy, synthetic biology, immunotherapy, etc. Digital drugs are also happening: FDA [Administracin de Alimentos y Medicamentos, la agencia gubernamental de EE. UU. responsable de la regulacin de dispositivos y otros productos mdicos] not long ago have started approving the first digital medical science [terapias digitales],

Lots of start-up that are part of your platform, from the capital sale, are By-product of universities. Based on your experience, what are the challenges you face while entering the market?

to some! They are a special kind of company, an excellent group to start working with. Speaking of the downside, what you usually find is a lack of professional experience, especially if they are in the stage of leaving the research centers. Spain probably still needs to improve a lot in terms of technology transfer, team building and By-product,

Spain probably still needs to improve a lot in terms of technology transfer, team building and spin-offs

You founded Capital Cell in 2015 because you saw its potential start-up Biomedical in Spain. How have you experienced the development of the innovation ecosystem in health in Spain, especially in the region deep technology And how would you rate its current state?

there is a big difference between start-up in higher health technology in 2020 than in 2010. Spain is a country that is far ahead in science: it was the 11th world producer of scientific articles in major publications, and some stood out Hotspot Like Catalonia, which will be the third producer of biomedical sciences per capita in the world. We are one of the worlds mainstays in science, and I hope to remain so for some time, despite one very worrying thing: public investment in R&D has been in free fall for a few years now. .

We have great science. In recent years he has been supplementing himself with two things he lacked: entrepreneurial ability and money. There are already quite a few specialized funds in biomedicine and funds have begun to focus on deep technology more broadly. amount of venture capital available to Biotechnology It has grown manifold in the last 5 years.

At the entrepreneurial level, entrepreneurship is an ecosystem: once the first company is formed, it is like a pollination cycle. There are about five or six people in that company, who succeed or fail, but in any case they accumulate experience. If all went well, he left and found five or six companies, or entered as directors, or devoted himself to investing the wheel of talent and entrepreneurship in high technology in Spain. is holding.

In recent years, Spanish science has been complemented by a lack of two things: entrepreneurial potential and money

As an expert, what technological trends or innovations do you think will mark the health sector in the coming years and what key challenges will be addressed?

They pass through two categories: those that will come from technological progress and those that come from socioeconomic needs. In the second case, they are clear: We are approaching a saturation point in the health system. We have an aging population and have difficulties supporting it financially. From there will trends such as the development of personalized and preventive medicine; In other words: as the system has to take care of many more people who live with chronic diseases for more years, the need will arise to prevent problems from appearing and thus maintain treatment for 30 or 40 years. will not be required.

It will focus a lot on early diagnosis, so the projects were looking at to detect tumors 10 or 12 years before they occur, detect genetic predisposition to diabetes, respiratory diseases all technologies Those who are able to avoid it a disease appears is a future trend.

All technologies that are able to prevent a disease from appearing are a trend for the future

There are also trends derived from the fact that there are clearly emerging amazing technologies, such as quantum computing, that could help computers more efficiently design drugs, among other things. This would take an already very obvious trend to a new level, the use of artificial intelligence, particularly applied to medical imaging.

At the biological level, there are many applications that stem from genomics. The fact that we are now able to sequence the entire genome of any individual is also one of the great changes in medicine. There is one trend that particularly fascinates me, which is synthetic biology, that is, creating or modifying living things. This has great ethical implications, but also a lot of opportunities, not only in medicine: the design of organisms that are capable of absorbing oil for oil fragments, bacteria that are more effective at reforestation although we can probably use 10 Or are 20 years away from being able to do anything with living things.

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"Technologies That Prevent A Disease From Appearing Will Be A Trend" - Nation World News

Last term, Drexel University professors were recognized for their scholarly research and prolific academic and professional contributions. This update offers a snapshot of activity courtesy of the Office of the Provost.

Sponsored Research

Jina Huh-Yoo, PhD, an assistant professor in the Department of Information Scienceat the College of Computing & Informatics, was selected by the National Science Foundation (NSF) to receive a Faculty Early Career Development Award (CAREER). A CAREER award is NSFs most prestigious award in support of early-career faculty who have the potential to serve as academic role models in research and education and lead advances in the mission of their department or organization. The award provides $599,993 in funding over five years for Huh-Yoos project titled A Platform for Co-Designing and Understanding the Roles of Conversational Artificial Intelligence Systems on Caregiving. The project aims to advance the state of the art of human-centered artificial intelligence, particularly in investigating the roles conversational AI systems can play in supporting caregivers (e.g., parents, guardians, family members) and how domain experts and caregivers can work together to define these roles.

College of Nursing and Health Professions professors Glenn Williams (co-investigator, or Co-I), PhD, assistant dean of health sciences, associate professor, chair of physical therapy and rehabilitation sciences and executive director of the doctor of physical therapy program, and Ben Binder-Markey (Co-I), DPT, assistant professor of physical therapy and rehabilitation science, with College of Medicine professor Simon Giszter, PhD, (principal investigator, or PI) received $147,000 for their project Prototype Electrode for Intramuscular Single Unit Myography and Electrodiagnostic.

A collaboration between Minjung Shim (PI), PhD, assistant research professor in creative arts therapies, and Co-I Kathleen Fisher, PhD, professor of graduate nursing in the College of Nursing and Health Professions; Arun Ramakrishnan, PhD, director of research labs in the College of Nursing and Health Professions; and Fengqing Zhang, PhD, associate professor of psychology in the College of Arts and Sciences received $96,000 for At-Home Telehealth Mindfulness-based Dance/Movement Therapy for Older Adults with Mild Cognitive Impairment: A Feasibility Study from Commonwealth Universal Research Enhancement (CURE) 2021 Formula Grant Program and Pennsylvania Department of Health Grant.

Naomi Goldstein, PhD, professor of psychological and brain sciences in the College of Arts and Sciences, was awarded an$846,480 grant from the National Institute of Justice for her project, Reducing School Violence and Enhancing School Safety: Implementing and Evaluating the Positive School Safety Program for School Climate Staff. The project explores the role of poorly supervised and unstructured time in regards to school-on-school violence and if skilled supervision can address this.

Jrn Venderbos, PhD, assistant professor in the Department of Physics in the College of Arts and Sciences and the Department of Materials Science and Engineering in the College of Engineering, received a five-year,$551,286 National Science Foundation Faculty Early Career Development Grant (NSF-CAREER) award from the Condensed Matter and Materials Theory program in the Division of Materials Research. His project, CAREER: Advancing the Many-body Band Inversion Paradigm for Correlated Quantum Materials, will allow his group to lay the theoretical groundwork for better understanding the impacts of strong electronic correlations in materials with band inversion.

Brian Wigdahl, PhD, professor and chair of microbiology and immunology in the College of Medicine, received a $704,060 grant from the National Institutes of Health (NIH) for Broad Spectrum HIV Gene Editing Strategies in Peripheral and Brain Reservoirs.

The Robert Wood Johnson Foundation awarded the Dornsife School of Public Health a $300,000 grant to support its scholars and their research as part of their Transforming Academia for Equity program. With this support, Dornsife is sustaining and creating the structures, policies and culture changes needed to ensure both the academic success of diverse scholars and the production of scientific knowledge relevant to eliminating health inequities. The project will be led by Scarlett Bellamy, ScD, professor and associate dean for diversity and inclusion, and Rene H. Moore, PhD, research professor, director of the Biostatistics Scientific Collaboration Center and director of diversity, equity and inclusion for the Department of Epidemiology and Biostatistics.

Alina Schnake-Mahl, ScD, assistant research professor in health management and policy in the Urban Health Collaborative and the Department of Health Policy and Management in the Dornsife School of Public Health, was awarded a five-year, $637,000 K01 grant from the National Institutes of Allergy and Infectious Diseases to study the social and policy determinants of COVID-19 and influenza disparities.

Delia Solomons, PhD, assistant professor in the Antoinette Westphal College of Media Arts & Design, received a Henry Moore Foundation grant to support the writing of a catalog of the Venezuelan artist Marisols retrospective at the Albert-Knox Gallery in 2023.

Sriram Balasubramanian (PI), PhD, associate professor in the School of Biomedical Engineering, Science and Health Systems, received a five-year, $1.9 million NIH R01 grant for the project titled, Investigating Injury Mechanisms and Prevention Strategies for Brachial Plexus and Concomitant Spinal Cord Injuries in Neonates.

Joshua Snyder, PhD, associate professor of chemical and biological engineering in the College of Engineering, received an award from the Lawrence Berkeley National Laboratory for his project entitled Advanced PILBCP Ionomer Composites for Durable Heavy-Duty Proton-Exchange Membrane Fuel Cells (PEMFC). This project presents a strategy to achieve an improvement in performance and efficiency at higher average operational voltages and mitigate many of the sources of active area and activity loss over an extended PEMFC lifetime.

Kenneth Lau, PhD, professor and associate department head of chemical and biological engineering in the College of Engineering, is the sub-recipient with the University of Delaware for an award from the National Science Foundations Partnerships for Innovation (PFI) program. The PFI Program offers researchers the opportunity to perform translational research and technology development, catalyze partnerships and accelerate the transition of discoveries from the laboratory to the marketplace for societal benefit. Laus project, Next Generation, Conformable, Hybrid Heterojunction Solar Cells, focuses on the development of high-efficiency, inexpensive, flexible and conformable solar cells based on the hybrid organic-silicon heterojunction technology.

Christian Resick, PhD, associate professor of management in the Bennett S. LeBow College of Business, is a co-investigator on Taking Science to the Streets: Fire Service Safety Culture Assessment and Training, a study by the Dornsife School of Public Health made possible through a $1.5 million grant from the Assistance to Firefighters Grant Program run by the Federal Emergency Management Agency and the Department of Homeland Security.

The School of Education and the Academy of Natural Sciences of Drexel University recently received a $1.35 million NIH grant to support early childhood education efforts that focus on science, math, nutrition and literacy skills.

The second round of Museum Innovation Fund grants through the Academy of Natural Sciences selected three new project proposals, including a project by Drexel product design faculty and students in the Antoinette Westphal College of Media Arts & Design. Employing a user-centered design process, Westphal students will work with high school students and Academy staff to co-create an innovative pop-up lab module for Water Year designed to engage the public in Philadelphias diverse neighborhoods.

The College of Medicines Partnership Comprehensive Care Practice received three years of funding ($857,672 per year) from the Ryan White HIV/AIDS Program of the Health Resources & Service Administration. These funds help support the practices medical providers, case management team, nutritionist and other support services.

Major Gifts, Honors and Recognition

Alexander Fridman, PhD, John A. Nyheim Chair Professor in the College of Engineering and director of the C. J. Nyheim Plasma Institute, received the ISPlasma Prize from the International ISPlasma Society and Applied Physics Society of Japan.

Robert McCracken Peck, senior fellow of the Academy of Natural Sciences, was elected to the American Philosophical Society.

Ebony White, PhD, assistant clinical professor in the Counseling and Family Therapy Department in the College of Nursing and Health Professions, is the 2021 Dr. Judy Lewis Counselors for Social Justice Award recipient. This award recognizes a person (or persons) who has (have) engaged in social justice and advocacy aimed at making the lives of others and/or communities better through empowerment, community organizing and/or systems change through active engagement.

Dave DeMatteo, JD, PhD, professor of psychological and brain sciences in the College of Arts and Sciences, received the 2021 Psyche Award for the Most Valuable Paper on Psychological Assessment. The award is presented annually by the Journal of Contemporary Psychotherapy, and his article, Use of the Psychopathy Checklist-Revised in legal contexts: Validity, reliability, admissibility, and evidentiary issues, published in the Journal of Personality Assessment, was selected from several hundred articles.

Alex Ortega, PhD, professor of health policy in the School of Public Health and director of the Center for Population Health and Community Impact, joined the NIH National Heart, Lung, and Blood Institutes Observational Study Monitoring Board for the Hispanic Community Health Study/Study of Latinos. The Hispanic Community Health Study/Study of Latinos is a multi-center epidemiologic study in Hispanic/Latino populations to assess the role of acculturation in the prevalence and development of disease and identify factors playing a protective or harmful role in the health of Hispanics/Latinos.

Jana Hirsch, PHD, assistant research professor in the Urban Health Collaborative in the Dornsife School of Public Health, was recognized through the NIHs Collaborative Cohort of Cohorts for COVID Research (C4R)as an Early Career Investigator Awardee. Hirsch and colleagues will be analyzing data from over 47,000 American adults to better understand COVID-19 risk and resilience.

Sharon L. Walker, PhD, dean and distinguished professor of civil, architectural and environmental engineering in the College of Engineering, was elected vice chair of the Engineering Deans Council of the American Society for Engineering Education (ASEE). The council is a consortium of deans from all the engineering colleges affiliated with ASEE, representing more than 90 percent of all U.S. engineering deans. Additionally, Dean Walker was elected to the College of Fellows for the American Institute for Medical and Biological Engineering (AIMBE). Election to the AIMBE College of Fellows is among the highest professional distinctions accorded to a medical and biological engineer.

Adam Fontecchio, PhD, professor of electrical and computer engineering in the College of Engineering, was elected as the next Director of the Center for the Integration of Research Teaching and Learning (CIRTL), a network of 42 research universities in the United States and Canada that provides evidence-based, forward-thinking professional development to students at the graduate level.

Andrew Magenau, PhD, assistant professor of materials science and engineering in the College of Engineering, has been appointed as a 2022 Fellow in the Air Force Research Lab Summer Faculty Fellowship Program at AFRL - Materials and Manufacturing. The program is a continuous 8- to 12-week summer program that allows fellows to perform high-quality and meaningful research at Air Force sites.

A $10 million gift to Drexel from Ron W. Disney, BS 72 commerce and engineering, and Kathy Disney includes the second-largest individual gift ever made to the LeBow College of Business. Overall, the gift will promote diversity, equity and inclusion and provide scholarship funds and program support for students from underrepresented backgrounds, including through the creation of funds supporting student advising, cooperative education, need-based scholarships, operational support, research and program innovation.

The Lindy Institute for Urban Innovation, housed in the Antoinette Westphal College of Media Arts & Design, received $5 million in grants from the family of the late Philip B. Lindy (19302013), a generous benefactor of Drexel University, which will significantly further the Lindy Institutes mission to forge innovative strategies to equitably advance Philadelphia and other cities across the country and globe. The donation, made by Alan, Elaine and Frank Lindy, is intended to support the philanthropic vision and interests of their father and is the latest in several significant gifts to Drexel from two generations of the Lindy family.

The Drexel Food Lab in the College of Nursing and Health Professions received $5,000 from Zo Pappas, her second $5,000 gift to this fund.

The Pennoni Honors College has received a $275,000 Teagle Implementation Grant for its Program in Civic Foundations for a sequence of courses for a scaled-up cohort of Honors Program freshmen. The Program in Civic Foundations grounds a civic sense of Philadelphia in history, philosophy and social justice. This follows the Teagle Planning Grant received in 2020-21.

Eight College of Medicine faculty members, two alumni, 25 residents and fellows and 50 MD students were inducted into the Alpha Omega Alpha Honor Medical Society. Four College of Medicine faculty members, three residents and 27 MD students were inducted into the Gold Humanism Honor Society.

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Faculty Highlights: Recent Awards and Grants - Drexel University

While Cesarean delivery remains the most common surgical procedure among women of reproductive age, hysterectomy isnt far behind, according to Johns Hopkins Medicine. The second most common surgery for women of childbearing age, hysterectomy involves the surgical removal of the womb. It can be performed using three different techniques: vaginal, abdominal, and laparoscopic.

According to the National Womens Health Network, approximately 600,000 hysterectomies are performed each year.

In fact, about one-third of American women will have had a hysterectomy by the age of 60, statesBrigham and Womens Hospital.

However, Dr. Jennifer Lang, an obstetrician-gynecologist and gynecological oncologist based in Los Angeles, believes hysterectomies are over-performed.

I consider removing this particular organ as a very radical and extreme act that should be only proceeded with after a thorough review and trial of every other less extreme option that is out there, Lang, who sees the uterus as a sacred organ that plays a spiritual role in a womans life, told The Epoch Times.

When nonmalignant tumors cause heavy bleeding and pelvic pain, doctors will often recommend a hysterectomy. Without a uterus, a woman no longer experiences painful periods.

Endometriosis is a condition in which uterine tissue extends outside of the uterine walls and attaches to the ovaries, intestines, or fallopian tubes. This can cause severe bleeding and pelvic pain.

Uterine prolapse occurs when the uterus falls out of its normal position due to the weakening of the ligaments. A woman who has a prolapsed uterus often feels pressure in her lower abdomen and may not be able to fully empty her bladder.

In a 2016 study conducted by Duke Cancer Institute, scientists observed that women with the BRCA1 gene were specifically at risk for uterine carcinomas.

Some women who have the BRCA gene elect, after a recommendation from their doctor, to get a prophylactic hysterectomy to reduce their likelihood of developing cancer.

While you may think hysterectomieslike mastectomiesare mostly performed to prevent or treat cancer, only 10 percent of hysterectomies are to treat cervical, endometrial, or ovarian cancer, according to Johns Hopkins Medicine.

The hysterectomy procedure dates all the way to the Middle Ages when it was done in a more barbaric and dangerous way than it is today. They were previously conducted to remove a prolapsed uterus.

Early hysterectomies were performed without anesthesia.

The mortality rate was around 70 percent, according to the journal Clinical Obstetrics and Gynaecology. Women who were lucky enough to survive the operation often died shortly afterward from complications, which ranged from inflammation of the abdominal wall, hemorrhage, and sepsis.

Hysterectomies became safer in the 20th century as the complications decreased with the invention of anesthesia and antibiotics.

The current mortality rate from a hysterectomy is thought to be less than 1 percent, according to the National Womens Health Network. While this may seem reassuring, with 600,000 hysterectomies performed a year in the United States, these numbers suggest that thousands of women die from these operations every year.

A hysterectomy is surgical menopause. Pregnancy isnt possible afterward, and most women need to take hormones for the rest of their lives. That has been an ongoing source of sadness for my friend whom well call Anna. Anna felt she wasnt adequately counseled by the surgeon who removed her womb. Now, in her early 50s, she and her partner are trying to have a baby via surrogacy using donor eggs.

Complications are possible with any type of major surgery. Some of the short-term risks from getting a hysterectomy, according to Stanford Health Care, include allergic reaction to anesthesia, blood clots, blood loss, damage to surrounding organs, and infection.

Dr. Shannon Laughlin-Tommaso, an obstetrician-gynecologist who works at the Mayo Clinic in Rochester, Minnesota, conducted a longitudinal study for more than 20 years. She analyzed more than 2,000 women who had a hysterectomy for benign gynecological diseases.

That study, published in 2018, found that women who had hysterectomies were at increased risk for hypertension, high cholesterol, obesity, and even cardiac abnormalities.

The same sample of women was also analyzed in a separate longitudinal study published in 2019 in the peer-reviewed journal Menopause. Women post-hysterectomy, researchers discovered, were at an increased risk for anxiety and depression.

The risk of depression was even higher for women who underwent a hysterectomy between the ages of 18 and 35.

Laughlin-Tommaso is critical of the procedure. Because women often get a hysterectomy at a young age, knowing the risks associated with the procedure even years later is important, she told a reporter for the Mayo Clinic. Our study shows that removing the uterus may have more effect on physical and mental health than previously thought.

In 2021, the FDA approved the Hominis Surgical System, a new robotically-assisted surgical device (RASD) that can help facilitate transvaginal hysterectomy in certain patients. Because it enables surgeons to perform hysterectomies remotely, without needing to touch the patient, RASD has become an even more common method during COVID, according to Nature Machine Intelligence.

This technique surgeons to use computer-generated software to maneuver surgical instruments through tiny incisions in the patients body to remove the uterus through the vagina, rather than through the abdomen. A video camera is inserted laparoscopically through a small incision in the abdomen so that the instruments inside the patient are visible.

In 2021, the FDA conducted a clinical study of 30 patients undergoing transvaginal hysterectomy using the Hominis Surgical System to test its safety and effectiveness.

Patients ranged in age from 37 to 79 years old. More than half had comorbidities, including high cholesterol, hypertension, and osteoporosis.

According to the FDA, all 30 patients underwent successful hysterectomies via this new technique. Minor complications, such as blood loss and urinary tract infections, occurred.

While this seems promising, the study had several flaws. If the patients procedure didnt have to be converted to a traditional method of hysterectomy, it was considered successful. In addition, study participants were only followed for six weeks after the surgery. Whether they suffered long-term adverse effects is unknown.

But we do know about problems with another robotic hysterectomy method, the da Vinci System, which was cleared for use by the FDA in 2005.

In a 2009 study published in the journal Obstetrics and Gynecology, 510 patients were followed after their procedures were performed with the da Vinci. Twenty-one patients reported dehiscence (opening) of the surgical wound in the vagina. Six of the patients bowels prolapsed transvaginally.

A 2018 investigation by NBC found that in a 10-year period there were more than 20,000 adverse events caused by the da Vinci reported to the FDA.

Of those, 17,000 were device malfunctions, including parts of the device falling off into patients bodies, and 274 were deaths.

NBC also reported that training programs for surgeons to use the da Vinci werent required.

In 2015, Laurie Featherstone received a da Vinci hysterectomy. Weeks after her robotic-assisted operation, excess fluid filled her kidneys. Her ureter and colon had been burned by the device. She will use a colostomy bag for the rest of her life.

Despite her doctors reassurance that the robotic technique would lead to fewer complications, Featherstone now lives with permanent health problems.

I put all my faith in the doctor and didnt ask questions, Featherstone told NBC.

A 2015 study published in the American Journal of Obstetrics and Gynecology revealed that nearly 40 percent of hysterectomies may not be necessary.

This study analyzed the use of alternative treatments prior to a hysterectomy for women with benign conditions. They examined the medical records of 3,397 women who underwent hysterectomies.

Some of the results were shocking:

If these numbers are correct, of the 600,000 hysterectomized women in the United States, some 120,000 didnt need the procedure.

It seems women with benign gynecologic conditions arent being informed of alternative medical and natural treatments. Many doctors offer hysterectomies to women who may not need them without first considering less invasive methods.

Women with uterine fibroids can get a myomectomy, which surgically removes the fibroid while keeping the uterus intact. The Mayo Clinic describes the procedure as involving the removal of fibroids either through an incision in the abdomen or minimally invasive techniques through the belly button or vagina.

Myolysis is another alternative a woman can receive to treat fibroids. A gonadotropin-releasing hormone agonist is first given to decrease the size of the fibroid. The procedure is then performed by inserting a laser fiber or electrode into the fibroid to shrink it.

Women who experience heavy menstrual bleeding can also try endometrial ablation. This is a less invasive procedure that removes the uterine lining via electricity, fluids, cold, or balloon therapy, among others.

According to the NIH, hormone therapy may also be effective in treating endometriosis without needing a hysterectomy.

Dr. Aviva Romm, an integrative family physician who studied at Yale University, encourages her patients to focus on preventing fibroids in the first place and healing endometriosis naturally.

According to Romm, three lifestyle changes are key.

A 2016 study in the Journal of Obstetrics and Gynaecology Research found that a diet rich in cruciferous vegetables and fruits was correlated with reducing uterine fibroids.

An added benefit to eating fresh vegetables is that it can help cure endometriosis, Romm noted in an article, The Natural Approach to Endometriosis: Getting to Your Root Causes.

Consuming an excess amount of milk products causes an increase in estrogen levels. Uterine fibroids thrive in high-estrogen environments. Integrative doctors believe that dairy triggers the inflammatory process associated with endometriosis.

Endocrine-disrupting chemicals, as defined by the Endocrine Society, are substances in the environment, food sources, personal care products, and manufactured products that interfere with the normal function of your bodys endocrine system.

High exposure to these chemicals is known to increase fibroid growth. Everything you can do to reduce your exposure to these chemicals, including drinking out of glass instead of plastic, using chemical-free cosmetics, and eating organic produce, will help, Romm said.

There was a whole generation of obstetricians who were trained to believe that after a woman has reached menopause, her uterus was just an excess object that could cause problems if left inside, Lang said.

As more uterus owners are entering the surgical field, Lang hopes unnecessary hysterectomies will become less common.

Hysterectomies are fueled by the business of medicine and reimbursement for procedures, Lang insisted. Theres money there. Thats the darker side of medicine that we cannot ignore.

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Did You Need That Hysterectomy? - The Epoch Times

Male Pattern Baldness is also known as Androgenic Alopecia is among the most common causes of hair loss in males which can start at the age of 20-25 years and by the age of 50, half of the males experience partial or complete baldness or hair loss. Yes, its pretty common to lose your hair and almost go bald in your early twenties and as the name indicates, its genetic in nature and affects a lot of young population nowadays.

It is a common form of hair loss seen in men as well as females. Hair is lost in a well defined pattern leading to recession of the frontal hairline, with time leading to baldness. Earlier stages of the disease exhibits thinning of hair, giving the impression of reduced hair density.

This condition is related to genes and male hormones where your genes regulate the male pattern of baldness which acts through hormones therefore, there is a risk that one could inherit a family history. If your father, uncle or grandfather are bald, there's a considerable probability you can't avoid a similar outcome but in rare cases, it might happen that the hair loss is not implicated by hereditary factors but the gene mutation begins from the carrier and might impact the future generation. Such cases are known as sporadic cases.

Causes:

In an interview with HT Lifestyle, Dr B L Jangid , Dermatologist and Hair Transplant Surgeon at SkinQure Clinic in New Delhi's Saket, revealed, Your genes and male sex hormones have a role in male pattern baldness. It is caused by the conversion of testosterone to Dihydrotestosterone (DHT), which shrinks hair follicles and slows hair growth. The growth phase, or anagen, of the hair cycle, which typically lasts between three and six years, is thought to be shortened by DHT to just a few weeks or months. Other causes include:

Hereditary or genetic factors

Aging is the common reason

Loss of essential nutrients & improper diet

Psychological pressure and anxiety.

Hormonal changes during puberty, pregnancy, and menopause

Chronic illnesses or autoimmune diseases

Female problems like PCOS issues

Environmental factors like pollution, dust, etc.

Echoing the same, Dr Shivaani Yadav, MD Dermatologist and Cosmetologist at Medanta Gurgaon and SAYAA MED in Gurgaon, said, AGA is caused by number of factors with main culprit being an androgen - dihydrotestosterone. Increased levels of this androgen in hair follicles leads to shorter cycle of hair growth. This results in shorter and thinner hair, over time leading to baldness. There is also evidence of AGA being related to certain medical conditions such as coronary heart disease, prostate enlargement and disorders of insulin resistance in men and polycystic ovary syndrome in women. Also, stress and dietary insufficiencies may add upto the hairloss.

Warning signs and symptoms:

According to Dr B L Jangid, when the regular cycle of hair development is altered, hair loss results. He said, Most hair remains in a growth phase during the usual hair-growing cycle (known as the anagen phase). Before it falls out and new hair begins to grow in its place, this phase lasts for roughly 4 years. For those suffering from male pattern baldness, due to hormone interruption, it might happen that the hair growth is compromised for 1 or 2 years instead of 4 years and the hair has a much shorter development period before it starts to fall out.

He added, Bald spots and hair loss are the outcomes of this process. It is identified by the hair loss on the top and front of the head, as well as a receding hairline along with hair thinning. You may eventually acquire a bald patch on top of your head that gets larger with time, and the hair on your crown (the top of your head) may also get thinner. Hair loss along the sides and back of your head is typically not a symptom of male pattern baldness.

Treatments:

Dr Shivaani Yadav shared, With the advancement of medical sciences, there are multiple treatment options to treat AGA. Some of the common topical formulations are of minoxidil 2%-10% solutions, combination of minoxidil & finasteride, redensyl solutions and peptides sprays. Oral medicines for the condition should always be advised by your dermatologist. Biotin supplementation along with various essential vitamins and minerals also helps in regularising normal hair growth cycle. Certain in clinic treatment options like PRP (platelet rich plasma) which is an autologous growth serum also gives great results when done on a regular basis. For some, whove lost a substantial amount of their hair, hair transplant is a go to option. Hair transplant is a safe procedure when done by experienced hands and under correct supervision. Also, not to underestimate the role of a happy state of mind as well as a healthy diet.

However, Dr B L Jangid insisted that since male pattern baldness is genetically inherited, it cannot be avoided. He said, When hair loss is still modest, some therapies for male pattern baldness are more effective. Since Male pattern hair loss is divided into 7 stages, asking your doctor for information and guidance as soon as possible is a sensible move if you are concerned about hair loss. Medicines can help in hair growth; baldness can be postponed. It is recommended to visit a board-certified dermatologist who can guide you with the right treatment after diagnosing your hair loss stage. Minoxidil 5% - It is a liquid that can be applied to the areas of the scalp experiencing hair loss twice per day. It boosts scalp blood flow and promotes hair development.

He further suggested, Finasteride 1 MG: You can take one pill of finasteride every day. It functions by lowering hormone levels that contribute to male pattern baldness. The only side effect of this medicine is that even at low doses, it may cause reduced sperm counts in some men. Platelet-rich plasma (PRP): It is an add-on therapy to control hair loss and thinning. Activated plasma high in platelets is injected into a patient's scalp using this non-surgical therapeutic approach to promote hair growth and thickness.

In a few, male patterns baldness is commonly accepted by males as a natural aspect of ageing but some men may find that hair loss impairs their confidence and lifestyle, especially those who start losing their hair at a younger age. Dr B L Jangid concluded, Although we cant completely treat male pattern baldness but certain treatments have high success rates in delaying hair loss and promoting growth and thickness of hair. Your doctor can advise you on the course of treatment that could be most appropriate for you. They can educate you on the possible negative effects of your medications. Therefore, in order to prevent any additional harm, it is absolutely crucial to understand the baldness pattern and to see a hair transplant expert for the right diagnosis and treatment.

Originally posted here:
Male Pattern Baldness: Causes, warning signs and symptoms, treatment - Hindustan Times

As much as we all want the pandemic to be over, it's not. Cases are spiking in many areas and although safety precautions have been lifted, trying to avoid COVID is still recommended because there can be long lasting damaging effects that harm overall health and lingering symptoms that can continue for months. Eat This, Not That! Health spoke with different virus experts who explain what to know about COVID right now, when to still wear a mask and places to avoid in an effort to prevent getting sick. Read on to find out moreand to ensure your health and the health of others, don't miss Already Had COVID? These Symptoms May "Never Go Away".

Dr. J. Wes Ulm, Harvard and MIT-trained MD, PhD with a background in bioinformatics, gene therapy, genetics, drug discovery, consulting and education says, "That, as exhausted and fed up as we are with the pandemic, unfortunately the virus is not done with us, and we ignore its ongoing threat at our peril above all on a mass scale, as we've since learned, the danger of long COVID and cumulative organ damage from even mild cases in healthy individuals. The very name of the pathogen that causes COVID-19, SARS-CoV-2, is a bit of a misnomer, since the first four letters are an acronym for 'severe acute respiratory syndrome.' An active COVID infection indeed imperils lung function, but in the two years since its arrival shook the world, it's become clear that, more fundamentally, SARS-CoV-2 is a vascular pathogen. That is, upon gaining access to a human host (usually through a respiratory corridor like the mouth or nose, then into the airways), the virus races through the body through the ramifying blood vessels that supply virtually all our tissues. And since SARS-CoV-2 enters cells through ACE2, one of the most ubiquitous receptors in the body, it poses a serious threat across the spectrum of the body's vital organs, in a way that's rarely seen for infectious diseases.

The upshot is that, as tragic as the 1 million American deaths from acute COVID have been, the virus's most pervasive danger to US society is in its potential to gradually, progressively wreak havoc on victims' organs with each new infection accumulating damage through a thousand cuts, for perhaps tens of millions of Americans. Particularly in the last few months, physicians and researchers have managed to paint an alarming picture of just how insidious and subtly dangerous COVID is to the human body; it is not merely like a cold or flu, even if it presents that way initially for many (as does, for that matter, HIV). Multiple studies have now confirmed that even seemingly innocuous bouts of COVID-19 augment the risk of hypercoagulable states (the blood's tendency to clot) and serious sequelae like pulmonary emboli, of diabetes (both Type 1 and Type 2), of permanent lung dysfunction, of heart disease, of liver and kidney conditions, of brain damage, and of immune dysregulation. Moreover, because of SARS-CoV-2's disquieting skill at mutation and immune evasion, and our immune system's difficulty in sustainably 'remembering' the molecular hallmarks of the COVID spike protein after both vaccination and natural immunity, herd immunity is virtually impossible, and any misguided attempts to gain it with repeated infections will pose a serious danger to the organ and tissue function of a multiply infected individual. An increasingly frequent motif in many case reports is of COVID patients who experience what seem to be only mild brushes with the virus, barely sidelining them for a day or two only to suffer from a variety of documentable disorders in a range of tissues weeks or months down the road.

SARS-CoV-2, in other words, is one of the most formidable microbial foes we've ever faced as a society, possessing the contagion of measles and the capacity to disseminate systemically as few other pathogens can, alongside a fluid mutational capability that empowers it to nimbly evade the customary mechanisms of herd immunity. And it now has almost 8 billion human hosts worldwide, capable of disseminating it across borders in a way never seen for the plagues that ravaged communities before the 20th century. There have already been reports of sustained labor shortages in the USA and Britain, two of the hardest-hit countries, ensuing from the travails of millions of Americans and Britons battling the effects of long COVID or the serious illnesses to which COVID-19 predisposes us. If officials simply pursue a "let it rip" strategy for each new COVID variant, we'll be setting up US society for calamity in the months and years down the road as more and more millions of Americans tackle the ramifications of organ damage from the cumulative risk that builds with each infection. It's understandably troubling to have to fight such a tenacious enemy that keeps returning, again and again, with a new wave every few months. But this is effectively a war for which it is our generation's lot to fight; SARS-CoV-2 is a force of nature and will not subside for our convenience, and we ignore or dismiss it at our peril."

Dr. Mary Rodgers, the principal scientist at Abbott says, "I recommend following the guidance and recommendations made by government officials and healthcare experts in your area. If masks aren't required in your area, I recommend tracking cases in your area and if they're on the rise, consider wearing one when indoors and in crowded areas, especially if you are more vulnerable to COVID-19 or going around people who may be at a higher risk. It also comes down to each individual's comfort level; if mask wearing helps provide peace of mind, then I recommend using them."6254a4d1642c605c54bf1cab17d50f1e

Summer is here and we're tired of being isolated but Dr. Rodgers suggests avoiding, "Any crowded area where people aren't wearing masks, including concerts, grocery stores, etc. If cases are on the rise and mask mandates aren't instated in crowded areas, this could increase exposure and potential risk of contracting the virus. If found in this situation, I recommend taking proper precaution including getting vaccinated and boosted, wearing a mask, attempting to maintain a distance from others and testing before and/or after with rapid tests"including BinaxNOW Self Test by Abbott"to help prevent the spread."

Dr. Rodgers suggests staying away from, "bars and restaurants in areas with heightened cases. While some bars and restaurants do still have mask mandates, as soon as you're seated, you're able to remove your mask, allowing for potential spread. If going out to a bar or restaurant, I recommend dining outside as temperatures increase, avoiding times when it's more likely to be crowded, ensuring you're vaccinated and boosted and testing before and/or after with" self tests.

Who doesn't love a good buffet? While we might be tempted to enjoy a spread of gourmet cuisines, Dr. Syeda Amna Husain, a doctor who has partnered with Abbott doesn't recommend it. "People are touching their nose and mouth and then proceed to touch the spoons and containers in the buffet line, so there is always a possibility to transmit any kind of infection, not necessarily just COVID."

Follow the public health fundamentals and help end this pandemic, no matter where you liveget vaccinated or boosted ASAP; if you live in an area with low vaccination rates, wear an N95 face mask, don't travel, social distance, avoid large crowds, don't go indoors with people you're not sheltering with (especially in bars), practice good hand hygiene, and to protect your life and the lives of others, don't visit any of these 35 Places You're Most Likely to Catch COVID.

Wes Ulm, MD, PhD, is a physician-researcher, musician (J. Wes Ulm and Kant's Konundrum) ,and novelist, and earned a dual MD/PhD degree from Harvard Medical School and MIT. He is part of the Heroes of the COVID Crisis series in relation to his ongoing efforts in the drug discovery and public health arena.

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I'm a Virus Expert and I Warn You Not to Go Here Even if it's Open Eat This Not That - Eat This, Not That

Its rare for borderline personality disorder (BPD) and schizophrenia to occur together, but it is possible.

Mental health conditions arent usually cut-and-dry conditions. Its common for some people to have multiple mental health conditions that might be connected, such as living with depression and anxiety, or post-traumatic stress disorder (PTSD) and substance use disorder (SUD).

The same is true for some people with schizophrenia and borderline personality disorder (BPD), which can occur together.

To understand what the co-occurring disorders of borderline personality disorder and schizophrenia might look like, it can be helpful to familiarize yourself with what each disorder looks like separately.

And despite the seriousness of each condition, managing symptoms is possible with the right treatment plan.

You wont find the term borderline schizophrenia in the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM 5). It hasnt been a recognized disorder since 1980.

Borderline schizophrenia or pseudoneurotic schizophrenia is an outdated term once used interchangeably with borderline psychosis. Later on, this was split into the current classifications of schizotypal personality disorder and borderline personality disorder (BPD).

But there are some overlapping symptoms between BPD and schizophrenia.

It is possible for someone to have both disorders at the same time, though it is rare. But more research is still needed on the comorbidity of BPD and schizophrenia.

While 2014 research indicates that people with borderline personality disorder often experience co-occurring psychiatric conditions, the exact rate of schizophrenia and BPD comorbidity specifically isnt clear just yet.

A 2010 study found that 17.6% of people diagnosed with schizophrenia also met the criteria for BPD. But research from 2018 illustrated that schizophrenia was present in only 2% of females with BPD.

If you or a loved one has both BPD and schizophrenia, learning the similarities and differences of these conditions can be helpful in understanding how they may interact.

BPD is classified in the DSM 5 as a personality disorder, which is generally characterized by:

Research from 2008 found that up to 5.9% of people may experience BPD at some point in their lifetime. Onset typically occurs during adolescence or young adulthood.

Schizophrenia falls within the schizophrenia spectrum class of disorders in the DSM 5.

According to the National Institute of Mental Health (NIMH), schizophrenia affects less than 1% of the population, and is among the top 15 causes of disability worldwide, with symptoms indicating a diminished connection to reality.

Psychosis refers to a severe disconnection from reality. Psychotic episodes include hallucinations or delusions.

Psychosis can occur in both schizophrenia and borderline personality disorder, but psychotic episodes in BPD are, by definition, short, fleeting, and related to stress.

A significant but smaller percentage of people with BPD experience hallucinations than people with schizophrenia. According to research from 2021, an estimated 29% to 50% of people with BPD report hallucinations.

This is compared to an estimated 60% to 80% of people with schizophrenia who report experiencing these symptoms, based on a 2021 review.

And unlike schizophrenia, BPD psychotic episodes are generally not accompanied by negative symptoms or disorganization.

While its rare for BPD and schizophrenia to cooccur together, some symptoms may overlap.

Knowing the differences in how each conditions symptoms can look and feel can be helpful.

Schizophrenia symptoms generally fall under three categories:

Some of the most common symptoms of borderline personality disorder include:

A significant but smaller percentage of people with BPD may also experience:

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The causes of both BPD and schizophrenia arent entirely clear to experts at this time, and more research is needed. Its believed that genetics, physiology, and environment all play a role in the development of these conditions.

No single factor is likely to lead to the development of these disorders but rather a complex combination of multiple sources.

Though no single gene has been identified as a cause of BPD or schizophrenia, its clear that family history may play a role in their development.

A 2017 review of twin studies found that if an identical twin develops schizophrenia, the other may have a higher chance of developing it, too.

Family members of those with BPD also have a higher chance of developing the condition, according to research from 2021.

But this doesnt mean that having a family member with one of these conditions guarantees that you will develop it, too.

Experiencing trauma early in life can be a contributing factor to developing BPD.

A 2021 review indicates that up to 90% of people living with BPD experienced childhood trauma, including:

A different 2021 review suggests that environmental sources may account for between 15% to 40% of the chance of developing schizophrenia, but those sources are believed to be more diverse than those that contribute to BPD.

This may include:

Differences in neurotransmitter levels especially serotonin and dopamine may impact the development of both schizophrenia and BPD.

And, its not just your brain chemicals. Regions of the brain in charge of emotion regulation and impulse control including the amygdala and hippocampus may look and function differently in people with BPD.

Neuroimaging research from 2018 of people with schizophrenia showed significant differences in the size and activity of the frontal and temporal lobes, which play a large role in:

Both BPD and schizophrenia require professional treatment to manage. These conditions can be more difficult to address if you havent received an accurate diagnosis.

Working with a doctor or therapist on designing an effective treatment plan can help you manage symptoms.

Treatment plans for both conditions may consist of a combination of:

Finding the best treatment plan for your symptoms can take time. You may have to try multiple strategies before finding what works for you.

Psychotherapy is considered a first-line treatment for BPD and is often used to treat schizophrenia in combination with medication.

Specific types of therapy used for BPD include:

Though research on how well transference-focused therapy performs is mixed.

For those with schizophrenia, therapy may focus more heavily on developing skills for managing everyday life.

Types of therapy commonly used include:

Currently, there are no FDA-approved medications available to specifically treat BPD. But some people with BPD may have overlapping mental health conditions and may be prescribed medications for those conditions, such as:

For people with schizophrenia, antipsychotic medication is commonly prescribed to help manage hallucinations and delusions, including:

Stress can impact both BPD and schizophrenia, and lifestyle changes centered on self-care can be essential for managing symptoms of these conditions.

Some examples of self-care strategies include:

If you or someone you know is experiencing symptoms of BPD and schizophrenia, youre not alone. Its possible to manage the symptoms of these conditions with the right treatment plan.

Consider talking with your doctor or therapist as a first step. Being curious and educating yourself on what these two conditions can look like as well as possible treatment options can be a helpful place to start your mental health journey.

If youre ready to get help but dont know where to begin, you can check out Psych Centrals hub for finding mental health support.

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Borderline Schizophrenia: What It Is and More - PsychCentral.com