Color Blindness - Human Genetics Assignment
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Prof George Fey Professor Emeritus of Genetics, University of Erlangen Nuremberg,CSO, SpectraMab

By: biopharmachannel

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Prof George Fey Professor Emeritus of Genetics, University of Erlangen Nuremberg,CSO, SpectraMab - Video

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Welcome

The Stem Cell Center Texas Heart Institute is dedicated to the study of adult stem cells and their role in treating diseases of the heart and the circulatory system. Through numerous clinical and preclinical studies, we have come to realize the potential of stem cells to help patients suffering from cardiovascular disease.We are actively enrolling patients in studies using stem cells for the treatment of heart failure, heart attacks, and peripheral vascular disease.

Whether you are a patient looking for information regarding our research, or a doctor hoping to learn more about stem cell therapy, we welcome you to the Stem Cell Center. Please visit our Clinical Trials page for more information about our current trials.

Emerson C. Perin, MD, PhD, FACC Director, Clinical Research for Cardiovascular Medicine Medical Director, Stem Cell Center McNair Scholar

You may contact us at:

E-mail: stemcell@texasheart.org Toll free: 1-866-924-STEM (7836) Phone: 832-355-9405 Fax: 832-355-9440

We are a network of physicians, scientists, and support staff dedicatedto studying stem cell therapy for treating heart disease. Thegoals of the Network are to complete research studies that will potentially lead to more effective treatments for patients with cardiovasculardisease, and to share knowledge quickly with the healthcare community.

Websitein Spanish (En espaol)

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The Stem Cell Center at Texas Heart Institute

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For millions of people around the world, who suffer from various diseases, research in stem cells offers a ray of hope. Scientists of the city-based Indian Institute of Science have used stem cells of a mouse to culture cardiac cells.

Explaining the research, Polani B. Seshagiri said their research over the past seven years has helped develop cardiac cells that function and beat in rhythms identical to the original cell.

Speaking on Stem Cell Awareness Day recently, Prof. Seshagiri said stem cells had several advantages and could cure human disorders and diseases, which could not be cured by conventional approaches. However, he warned that there was a need to be aware of the limitations of stem cells.

Sudarshan Ballal, Medical Director, Manipal Health Enterprise, said stem cells had enormous potential as they never die and could be converted into any cell. Stem cells can be converted into organs and maybe years later, organs can be cultivated in labs through stem cell, he said. Elaborating further, he said a stem cell could be compared to a bicycle, which could turn into car, motorbike and spaceship based on the environment and conditions.

Nazeer Ahmed, Deputy Drug Controller of Karnataka, said they were in the process of chalking out regulations for stem cells as there were currently no rules to regulate stem cell research and therapy.

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Scientists develop cardiac cells using stem cells

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Dr. Gabriele DUva is finishing up his postdoctoral research at the Weizmann Institute. Here is his account of three years of highly successful research on regenerating heart cells after injury. Among other things, it is the story of the way that different ideas from vastly different research areas can, over the dinner table or in casual conversation, provide the inspiration for outstanding research:

Three years ago, when I joined the lab of Prof. Eldad Tzahor, the emerging field of cardiac regeneration was totally obscure to me. My scientific track at that time was mainly focused on normal and cancer stem cells: cells that build our bodies during development and adulthood. The deregulation of these cells can lead to cancer. I have to admit that I didnt know even the shape of a cardiac cell when my postdoc journey started

Eldads lab was also switching fields well, not drastically, like me, but still it was a transition from a basic research on the development of the heart to the challenge of heart regeneration during adult life.

Two neonatal cardiomyocytes (staining in red) undergoing cell division after treatment with NRG1

In contrast to most tissues in our body, which renew themselves throughout life using our pools of stem cells, the renewal of heart cells in adulthood is extremely low; it almost doesnt exist. Just to give an approximate picture of renewal and regeneration processes: Every day we produce billions of new blood cells that completely replace the old ones in a few months. In contrast, heart cells renewal is so low that, many cardiac cells remain with us for our entire life, from birth to death! Consequently, heart injuries cannot be truly repaired, leading to (often lethal) cardiovascular diseases. This might appear somewhat nonsensical, since the heart is our most vital organ: No (heart) beat no life.

Hence a challenge for many scientists is to understand how to induce heart regeneration Scientists have been trying different strategies, for example, the injection of stem cells. We decided to adopt a different strategy one that mimics the natural regenerative process of healing the heart in such regenerative organisms as amphibians and fish, and even newly-born mice. In all these cases the regeneration of the heart involves the proliferation of heart muscle cells called cardiomyocytes. Therefore the challenge before us was: How can we push cardiomyocytes to divide?

We adopted a team strategy. Cancer turned out to be a somewhat useful model for a strategy. After all, the hallmark of this disease is continuous self-renewal and cell proliferation. Starting from this thought, Prof. Yossi Yarden, a leading expert in the cancer field, suggested: Why dont you try an oncogene, such as ERBB2, whose deregulation can lead to uncontrolled cellular growth and tumour development? The idea was that cardiomyocytes could be pushed into a proliferative state by this cancer-promoting agent. To Eldad, this was a nice life circle closing, since Eldad, when he was a PhD student in Yossis lab, focused exactly on the ERBB2 mechanism of action in cancer progression. I must admit, the idea sounded very intriguing and I really liked it.

Eldad, as a developmental biologist, had a different approach. Based on his field of expertise, his tactic was to apply proliferative (and regenerative) strategies learned from the embryos, when heart cells normally proliferate to form a functional organ. It turned out that a key player in driving embryonic heart growth is again ERBB2!

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Guest post: Dr. Gabriele DUva: How to Grow New Heart Cells [The Weizmann Wave]

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Mesenchymal stem cells captured in microcapsules. Each microcapsule is roughly 40 micrometers across.

A team of Cornell scientists has shown that stem cells confined inside tiny capsules secrete substances that help heal simulated wounds in cell cultures, opening up new ways of delivering these substances to locations in the body where they can hasten healing.

The capsules need to be tested to see if they help healing in animals and humans, but they could eventually lead to living bandage technologies: wound dressings embedded with capsules of stem cells to help the wound regenerate.

Microencapsulated equine mesenchymal stromal cells promote cutaneous wound healing in vitro appeared in the April 10Stem Cell Research & Therapy.

The encapsulation seems to increase the stem cells regenerative potential, said Gerlinde Van de Walle of the Baker Institute for Animal Health in the College of Veterinary Medicine, adding that the reasons why are not yet known. It's possible that putting them in capsules changes the interactions between stem cells or changes the microenvironment.

To her knowledge, Van de Walle said, this is the first time encapsulated stem cells have been used to treat wounds. Her team used horse stem cells and cell cultures because, unlike mice, the healing process in horses shares important similarities with the healing process in humans and because wound healing in horses is a particularly difficult problem in veterinary medicine.

Mesenchymal stem cells are adult stem cells that can be isolated from different parts of the body, and its long been known that they secrete substances that aid in tissue healing. Problems arise when trying to use these stem cells in real patients, Van de Walle said, because they often wont stay put in the healing area and can occasionally form tumors or develop into unwanted cell types. She and her team began exploring the possibilities of encapsulating these cells as a way of avoiding these pitfalls. The capsules help cells stay in place while they secrete substances into the wound and can be removed easily if the stem cells would develop in an adverse way.

The researchers collaborated with Mingling Ma of the Department of Biological and Environmental Engineering and his laboratory to create the coreshell hydrogel microcapsules around the stem cells

Van de Walle says she was excited to see that the capsules did not abolish the stem cell properties but instead appeared to enhance the beneficial effects the stem cell secreted products have on tissue cultures. This suggests that encapsulating the stem cells for wound healing not only avoids certain problems, it can boost the effectiveness of treatment.

With their mesenchymal stem cell work, Van de Walle and her colleagues are trying to understand the basic science behind the regenerative abilities of these cells.

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Encapsulated stem cells accelerate wound healing

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U.S. Stem Cell Clinic: Meet Kristin Comella
Ms. Comella has over 15 years experience in corporate entities with expertise in regenerative medicine, training and education, research, product development, and senior management. Ms. Comella...

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La Jolla, California (PRWEB) April 13, 2015

The top stem cell therapy clinic in Southern California, Telehealth, is now offering a wound healing guarantee with its innovative stem cell therapy program.The program works exceptionally well for those dealing with nonhealing wounds as a result of diabetes or other issues. Simply call (888) 828-4575 for more information and scheduling at any of the stem cell clinics in La Jolla, Irvine, Orange or Upland.

Nonhealing wounds lead to considerable disability and the potential for infection and amputation. Telehealth has developed a stem cell therapy that routinely works for healing these problematic wounds, especially for diabetic ulcers.

The stem cell therapy wound healing guarantee includes closing an ulcer wound within 90 days as long as it is less than 2 cm x 4 cm in size. Thankfully, Telehealth is also able to close larger ones as well. The Board Certified physicians have extensive experience with stem cell therapy for all types of musculoskeletal conditions.

There are several types of stem cell procedures available at the four locations in La Jolla, Irvine, Orange and Upland. Board certified physicians perform the procedures and oversee the care.

In addition to treating nonhealing wounds, Telehealth also treats degenerative arthritis, tendonitis, ligament injuries, degenerative disc disease, peripheral artery disease and more.

The stem cell therapy for nonhealing wounds is often partially covered by insurance. For more information and to schedule an appointment with the top stem cell clinics in Southern California, call (888) 828-4575.

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Telehealth Stem Cell Clinic Now Offering Wound Healing Guarantee

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NYC, NY (PRWEB) April 13, 2015

NYC Health & Longevity Center is now offering outpatient stem cell therapy to help patients avoid joint replacement in all extremities. The treatments are performed by a Board Certified physician, with most patients being able to avoid or delay the need for surgery. Simply call (844) GET-STEM for more information and scheduling with stem cell therapy NYC trusts.

Millions of joint replacements are performed in the US annually for degenerative arthritis of the knee, hip, shoulder, elbow, wrist and ankle. While these are mostly effective, they are not risk free procedures and should be avoided as long as possible. In addition, the implants placed are not meant to last forever.

With stem cell therapy now being commercially available, individuals now have access to the most cutting-edge procedures with the potentially to actually regenerate damaged tissue. This includes cartilage, ligament and tendon.

The stem cell procedures are performed by a Board Certified Anti-Aging doctor with considerable experience in both the stem cell procedures along with prolotherapy too.

The stem cell material comes from amniotic fluid that is obtained from consenting donors after a scheduled C-section, which is then processed at an FDA regulated lab. No fetal tissue or embryonic stem cells are used, eliminating any ethical concerns. Amniotic fluid causes no rejection, and has a very high amount of stem cells, growth factors and anti-inflammatory effects. The overall result is typically tremendous pain reduction and functional improvements that are long lasting.

Stem cell therapy for arthritis is performed on an outpatient basis, with absolutely minimal risk. The procedure takes less than a half hour, with patients able to return to desired activities quickly.

Along with degenerative arthritis, the stem cell procedures also help rheumatoid arthritis along with tendonitis of the rotator cuff, Achilles, elbow and knee. Athletes benefit from typically being able to avoid surgery and get back their sport much faster than with conventional treatments.

For more information on stem cell therapy at NYC Health & Longevity Center for extremity arthritis of the hips, knees, shoulders, elbow, wrist or ankle, call (844) GET-STEM.

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NYC Health & Longevity Center Now Offering Stem Cell Therapy to Avoid Joint Replacement

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Posted: Monday, April 13, 2015 8:31 am

Evans to discuss gene therapy at Mayo , Post-Bulletin staff Post-Bulletin Company, LLC

Christopher H. Evans, Ph.D., will speak about gene therapy at the Sigma Xi Public Lecture at 7:30 p.m. on April 21 in Phillips Hall at the Mayo Clinic.

Evans is professor and director of the Rehabilitation Medicine Research Center at Mayo Clinic, and he's the Maurice Muller Professor of Orthopaedic Surgery Emeritus at Harvard Medical School.

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Evans to discuss gene therapy at Mayo

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ANN ARBOR--Research led by the University of Michigan Life Sciences Institute has identified a gene critical to controlling the body's ability to create blood cells and immune cells from blood-forming stem cells--known as hematopoietic stem cells.

The findings, scheduled for online publication in the Journal of Clinical Investigation April 13, provide new insights into the underlying mechanics of how the body creates and maintains a healthy blood supply and immune system, both in normal conditions and in situations of stress--like the body experiences following a bone marrow transplant.

Along with helping scientists better understand the body's basic processes, the discovery opens new lines of inquiry about the Ash1l gene's potential role in cancers known to involve other members of the same gene family, like leukemia, or those where Ash1l might be highly expressed or mutated.

"It's vital to understand how the basic, underlying mechanisms function in a healthy individual if we want to try to develop interventions for when things go wrong," said study senior author Ivan Maillard, an associate research professor at the Life Sciences Institute, where his lab is located, and an associate professor in the Division of Hematology-Oncology at the U-M Medical School.

"Leukemia is a cancer of the body's blood-forming tissues, so it's an obvious place that we plan to look at next. If we find that Ash1l plays a role, then that would open up avenues to try to block or slow down its activity pharmacologically," he said.

Graduate students Morgan Jones and Jennifer Chase were the study's first authors.

Dysfunction of blood-forming stem cells is well known in illnesses like leukemia and bone marrow failure disorders. Blood-forming stem cells can also be destroyed by high doses of chemotherapy and radiation used to treat cancer. The replacement of these cells through bone marrow transplantation is the only widely established therapy involving stem cells in human patients.

But even in the absence of disease, blood cells require constant replacement--most blood cells last anywhere from a few days to a few months, depending on their type.

Over more than five years, Maillard and his collaborators identified a previously unknown but fundamental role played by the Ash1l gene in regulating the maintenance and self-renewal potential of these hematopoietic stem cells.

The Ash1l (Absent, small or homeotic 1-like) gene is part of a family of genes that includes MLL1 (Mixed Lineage Leukemia 1), a gene that is frequently mutated in patients who develop leukemia. The research found that both genes contribute to blood renewal; mild defects were seen in mice missing one or the other, but lacking both led to catastrophic deficiencies.

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U-M researchers find new gene involved in blood-forming stem cells

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Melanoma cells become drug resistant by using surrounding healthy cells to provide a 'safe haven' from treatment, according to new research* published in Cancer Cell today (Monday).

Around half of melanomas are caused by a mutation in a gene called BRAF. Drugs called BRAF inhibitors treat these melanomas by targeting the faulty gene. But these cancers can quickly develop resistance to these targeted treatments.

Scientists at the Francis Crick Institute, funded by Cancer Research UK, and at the Cancer Research UK Manchester Institute have discovered that a side effect of BRAF inhibitors is that they prompt healthy cells to form a 'safe haven' shielding melanoma cells from cancer drugs. So even if some cancer cells are destroyed, the protected cancer cells may survive - and the disease can recur in a form that is untreatable.

Carried out in cells in the laboratory, in mice and in samples from patients' tumours, the researchers showed this 'safe haven' lets melanoma cells turn on a parallel set of cell signals that helps them survive. By adding a second experimental drug that blocks this alternative survival route by targeting a protein called FAK, the researchers discovered that resistance to BRAF inhibitors can be overcome.

This combination of two drugs increased cell death and slowed growth in cell samples, and also stopped tumours from growing larger in mice.

Importantly, while not a cure, adding a second targeted therapy could help improve treatments by overcoming drug resistance and extending the time before the cancer returns.

FAK inhibitors are being tested on their own in early stage cancer clinical trials, but it will be some years before it is known if combining these drugs with BRAF inhibitors could help patients.

Around 13,300 cases of malignant melanoma were diagnosed in 2011 in the UK, that's 37 people every day. Over the last thirty years, rates of malignant melanoma in Great Britain have risen faster than any of the current top ten cancers.

Study author Dr Erik Sahai, based at the Francis Crick Institute, said: "Skin cancers caused by a faulty BRAF gene typically out-manoeuvre the targeted drugs used to treat them after a few months. Clearly understanding this process is an important first step in improving treatment. We've now mapped how melanoma cells exploit their neighbouring cells to survive in the presence of targeted drugs. It's clear that the 'safe haven' offered by the surrounding cells is triggered as a response to the same drugs that target this class of melanoma. Knowing more about this relationship means we can start to improve treatment."

Co-author Professor Richard Marais, director of the Cancer Research UK Manchester Institute at The University of Manchester, said: "Understanding the complex behaviour of melanoma cells is vital to improving survival. This research helps explain what's stopping the best drugs we have from working in this deadly skin cancer. This is early laboratory research and the next stage is to see if adding a second drug is safe and effective in patients. That said, we're making progress, and as our questions are answered we'll be able to develop and improve cancer treatments."

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Melanoma's 'safe haven' targeted for shut-down

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Medical researchers call it the "Angelina Effect," the surge in demand for genetic testing attributable to movie star Angelina Jolie's public crusade for more aggressive detection of hereditary breast and ovarian cancer.

But there's a catch: Major insurance companies including Aetna, Anthem and Cigna are declining to pay for the latest generation of tests, known as multi-gene panel tests, Reuters has learned. The insurers say that the tests are unproven and may lead patients to seek out medical care they don't need.

That's a dangerous miscalculation, a range of doctors, genetic counselors, academics and diagnostics companies said. While they acknowledge that multi-gene tests produce data that may not be useful from a diagnostic standpoint, they say that by refusing or delaying coverage, insurance companies are endangering patients who could be undergoing screenings or changing their diets if they knew about the possible risks.

The tests have come a long way since Jolie, 39, went public in 2013, revealing that she underwent a double mastectomy after a genetic test found she carried mutations in the BRCA1 and BRCA2 genes, indicating a high risk of breast and ovarian cancer. She disclosed last month that she had her ovaries and fallopian tubes removed.

The new panel tests, which can cost between $2,000 to $4,900, analyze 20 or more genes at once. That allows healthcare professionals to establish possible DNA links to other cancer-related conditions such as Lynch syndrome and Li-Fraumeni Syndrome earlier. Humans have about 23,000 genes.

Susan Kutner, a surgeon at a Kaiser Permanente hospital in San Jose, California, who serves on a U.S. Centers for Disease Control and Prevention advisory committee on young women and breast cancer, said more women with a family history of cancer should be able get these tests.

"If we have members who are not being tested in a timely manner, we know that their risk of cancer in the long run costs us and them a lot more," Kutner said.

Kaiser, which insures its own members, covers panel tests for patients with family histories of cancer.

That's not so at three of the four largest managed care companies. Aetna Inc, Anthem Inc and Cigna Corp state in their policies that in most cases they don't cover multi-gene panel tests. The fourth, UnitedHealth Group, covers the tests if patients meet certain criteria.

All insurers cover screenings for BRCA1 and BRCA2 and for certain other genes for women who have family histories of cancer. Indeed, such coverage is mandated by the Affordable Care Act, known as Obamacare.

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Aetna, Cigna balk as Angelina effect spurs genetic cancer testing

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Psygen genetics
Akeisel about a week or two from being done. Looking real good can #39;t wait to smoke this one.

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Psygen genetics - Video

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ADVANCED GENETICS! - Minecraft Modded - Episode 9
In this episode we get attacked by an army of fire demons! Then we work on making some advanced genetics machines! Mod List- Armour Status HUD Better Furnaces Damage Indicators Treecapitator.

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ADVANCED GENETICS! - Minecraft Modded - Episode 9 - Video

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Download The Origins of Theoretical Population Genetics PDF
Dowmload PDF Here: http://bit.ly/1DjMzj1.

By: Hendra Martin

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Download The Origins of Theoretical Population Genetics PDF - Video

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Optogenetics without Genetics
This video first shows an animation depicting optical stimulation of neurons using gold nanoparticles. Then, it shows a few examples of data demonstrating the capabilities of this technique....

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Optogenetics without Genetics - Video

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The Sims 3 - Perfect Genetics Challenge - Pt15 - MULTIPLES!
The family receive an unexpected house guest and Emma gives birth to multiples...but how many and do any have the Perfect Genetics? If you like this video please leave a thumbs up, it...

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The Sims 3 - Perfect Genetics Challenge - Pt15 - MULTIPLES! - Video

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While it has long been recognized that genetics -- alongside environmental factors -- play a role in developing psychiatric disorders, the function of individual genes is still largely unknown. But an international, multi-disciplinary team led by Bournemouth University's Dr Kevin McGhee is aiming to uncover just that -- using fruit flies to isolate and examine the genes involved in the development of schizophrenia, with the hope of improving knowledge and treatments for the condition.

"In psychiatric genetics, a lot of time and money has been invested in large, genomewide studies to find the genes that are involved," said Dr McGhee, a Senior Lecturer in Health Sciences at Bournemouth University (BU). "Now, we want to find out what the functions of those genes are. If you can do that, the ultimate impact is that you can then design better treatments." Dr McGhee is the principal investigator of the year-long project, working alongside colleagues from the National University of Ireland, Galway and University of British Columbia, Vancouver.

Students are also playing a part in the Bournemouth University funded project, with a number of dissertation students trained to carry out lab-based examinations of the fruit flies. They will isolate and switch off genes that human data has previously indicated play a role in schizophrenia, before examining the effect on the flies' nerve cells at different life stages.

"If we can prove that it works and can be applied to human psychiatric genetics, then it helps create a cheap and easy functional model that is beneficial to everyone," explained Dr McGhee. "I believe what we find out from these genetic studies will help infer what is going on biologically, and that will ultimately lead to better treatment."

Another strand of the research will help kickstart the use of psychiatric genetic counselling in the UK. Genetic counselling -- where patients and relatives are given advice and support around the probability of developing an inherited disorder -- has long been used to assess the risks around conditions like Down's Syndrome and certain cancers.

A psychiatric genetic counselling workshop -- the first of its kind -- is being held by the research team. It will explore how best to translate the increasing knowledge about the genetics of psychiatric disorders into educational and counselling-based interventions to improve outcomes for patients and their families.

"Genetic counselling will probably expand over the next ten or 20 years and we want to put BU at the forefront, as a UK leader in the field," said Dr McGhee, adding that the workshop has already attracted interest from around the world. "I think people having that education and training to be able to explain and support people through diagnosis will lead to better treatments and help reduce that sense of stigma and guilt around psychiatric disorders."

Open access publishing is another way in which Dr McGhee believes that the wider public can benefit and learn from research projects. "Impact is really important for research and open access really helps to achieve that -- as anyone can see it, whether they are students, doctors, charities, policy makers, whoever," he said. "I think, hopefully, another impact of this work will be to better show where we are with this research, which again goes back to open access -- helping people to see that there are hundreds of markers and hundreds of genes and they each have a very small effect.

"Ultimately, we want to educate the healthcare professionals, policy makers and eventually the public -- the patients and families who suffer from psychiatric diseases -- so that they are better informed."

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The genetics of psychiatric disorders

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The Chemistry, Manufacturing and Controls CMC Section of a Gene Therapy IND
FDA Presentation for "The Chemistry, Manufacturing and Controls (CMC) Section of a Gene Therapy IND" Other Information - UDI webinar (LIVE) at http://www.globalcomplianceseminar.com - Providing ...

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The Chemistry, Manufacturing and Controls CMC Section of a Gene Therapy IND - Video

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DAN DUNCAN CORE - Center for Cell Gene Therapy cGMP Facilities

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DAN DUNCAN CORE - Center for Cell & Gene Therapy cGMP Facilities - Video

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New research published online in Blood, the Journal of the American Society of Hematology (ASH), reports that children with "bubble boy disease" who undergo gene therapy have fewer infections and hospitalizations than those receiving stem cells from a partially matched donor. The research is the first to compare outcomes among children with the rare immune disorder -- also known as X-linked severe combined immunodeficiency (SCID-X1) -- receiving the two therapeutic approaches.

Children with SCID-X1 are born with a genetic defect that prevents them from developing a normal immune system. Because they are prone to life-threatening infections, infants with SCID-X1 must be kept in a sterile, protective bubble and require extensive treatment for survival beyond infancy. Infants with SCID are most likely to survive if they receive a stem cell transplant from a fully matched donor -- typically a sibling -- a procedure that replaces an infant's diseased stem cells with healthy donor cells. Following a successful fully matched transplant, infants with SCID-X1 are able to produce their own immune cells for the first time.

In the absence of a fully matched stem cell donor, infants with SCID-X1 may receive a transplant from a partial, or "half-matched," donor -- typically their mother or father. They may also undergo gene therapy, a much different approach. Gene therapy for SCID-X1 involves extracting an infant's own bone marrow, using a virus to replace faulty genetic material with a correct copy, and then giving "corrected" bone marrow back to the patient. Half-matched stem cell transplant and gene therapy represent secondary treatment approaches for infants with SCID-X1. Until recently, researchers had not yet compared outcomes among children treated with each respective approach.

"Over the last decade, gene therapy has emerged as a viable alternative to a partial matched stem cell transplant for infants with SCID-X1," said lead study author Fabien Touzot, MD, PhD, of Necker Children's Hospital in Paris. "To ensure that we are providing the best alternative therapy possible, we wanted to compare outcomes among infants treated with gene therapy and infants receiving partial matched transplants."

Dr. Touzot and colleagues studied the medical records of 27 children who received either partial-matched transplant (13) or gene therapy (14) for SCID-X1 at Necker Children's Hospital between 1999 and 2013. The children receiving half-matched transplants and the children receiving gene therapy had been followed for a median of six and 12 years, respectively.

The researchers compared immune, or T-cell, development among patients and also compared key clinical outcomes such as infections and hospitalization. Investigators observed that the 14 children in the gene therapy group developed healthy immune cells faster than the 13 children in the half-matched transplant group. In fact, in the first six months after therapy, T cell counts had reached normal values for age in more than three-fourths (78%) of the gene therapy patients, compared to roughly one-fourth (26%) of the transplant group. The more rapid growth of the immune system in gene therapy patients was also associated with faster resolution of some opportunistic infections (11 months in gene therapy group vs. 25.5 months in half-matched transplant group). These patients also had fewer infection-related hospitalizations (3 in gene therapy group vs. 15 in half-matched transplant group).

"Our analysis suggests that gene therapy can put these incredibly sick children on the road to defending themselves against infection faster than a half-matched transplant," Dr. Touzot said. "These results suggest that for patients without a fully matched stem cell donor, gene therapy is the next-best approach."

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The above story is based on materials provided by American Society of Hematology. Note: Materials may be edited for content and length.

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Gene therapy superior to half-matched transplant for 'bubble boy disease'

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Research first to compare alternative approaches to fully matched transplant for rare immune disorder

(WASHINGTON - April 13, 2015) - New research published online today in Blood, the Journal of the American Society of Hematology (ASH), reports that children with "bubble boy disease" who undergo gene therapy have fewer infections and hospitalizations than those receiving stem cells from a partially matched donor. The research is the first to compare outcomes among children with the rare immune disorder - also known as X-linked severe combined immunodeficiency (SCID-X1) - receiving the two therapeutic approaches.

Children with SCID-X1 are born with a genetic defect that prevents them from developing a normal immune system. Because they are prone to life-threatening infections, infants with SCID-X1 must be kept in a sterile, protective bubble and require extensive treatment for survival beyond infancy. Infants with SCID are most likely to survive if they receive a stem cell transplant from a fully matched donor - typically a sibling - a procedure that replaces an infant's diseased stem cells with healthy donor cells. Following a successful fully matched transplant, infants with SCID-X1 are able to produce their own immune cells for the first time.

In the absence of a fully matched stem cell donor, infants with SCID-X1 may receive a transplant from a partial, or "half-matched," donor - typically their mother or father. They may also undergo gene therapy, a much different approach. Gene therapy for SCID-X1 involves extracting an infant's own bone marrow, using a virus to replace faulty genetic material with a correct copy, and then giving "corrected" bone marrow back to the patient. Half-matched stem cell transplant and gene therapy represent secondary treatment approaches for infants with SCID-X1. Until recently, researchers had not yet compared outcomes among children treated with each respective approach.

"Over the last decade, gene therapy has emerged as a viable alternative to a partial matched stem cell transplant for infants with SCID-X1," said lead study author Fabien Touzot, MD, PhD, of Necker Children's Hospital in Paris. "To ensure that we are providing the best alternative therapy possible, we wanted to compare outcomes among infants treated with gene therapy and infants receiving partial matched transplants."

Dr. Touzot and colleagues studied the medical records of 27 children who received either partial-matched transplant (13) or gene therapy (14) for SCID-X1 at Necker Children's Hospital between 1999 and 2013. The children receiving half-matched transplants and the children receiving gene therapy had been followed for a median of six and 12 years, respectively.

The researchers compared immune, or T-cell, development among patients and also compared key clinical outcomes such as infections and hospitalization. Investigators observed that the 14 children in the gene therapy group developed healthy immune cells faster than the 13 children in the half-matched transplant group. In fact, in the first six months after therapy, T cell counts had reached normal values for age in more than three-fourths (78%) of the gene therapy patients, compared to roughly one-fourth (26%) of the transplant group. The more rapid growth of the immune system in gene therapy patients was also associated with faster resolution of some opportunistic infections (11 months in gene therapy group vs. 25.5 months in half-matched transplant group). These patients also had fewer infection-related hospitalizations (3 in gene therapy group vs. 15 in half-matched transplant group).

"Our analysis suggests that gene therapy can put these incredibly sick children on the road to defending themselves against infection faster than a half-matched transplant," Dr. Touzot said. "These results suggest that for patients without a fully matched stem cell donor, gene therapy is the next-best approach."

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Blood, the most cited peer-reviewed publication in the field of hematology, is available weekly in print and online. Blood is the official journal of the American Society of Hematology (ASH), the world's largest professional society concerned with the causes and treatment of blood disorders.

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Study: Gene therapy superior to half-matched transplant for 'bubble boy disease'

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April 13, 2015 3:37 pm by Meghana Keshavan | 0 Comments MedCity News

Cambridge gene therapy startup Voyager Therapeuticsjust wrapped up a $60 million Series B round to advance its treatments for conditions of the CNS like ALS and Parkinsons disease. Voyager is using the money to advance its five clinical and preclinical programs, as well as a platform developed around adeno-associated viruses.

New investors include Brookside Capital and Partner Fund Management, with participation from Wellington Management, Casdin Capital and two undisclosed blue chip investment funds. This roundsright on the heels of an impressive $45 million Series A from Third Rock, which was completed just about a year ago as the company launched.

Voyagers gene therapiesare in different stages of completion, with its Parkinsons therapy the most advanced:

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Cambridge gene therapy startup Voyager Therapeutics raises $60M for CNS disorders

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The Ottawa Hospital and the University of Ottawa have received a $4.2 million grant to support aclinical trial for stem cell therapy targeted atmultiple sclerosis patients.

One Pointe-Claire man says he knows from personal experience that the treatmentmesenchymal stem cell therapy could give someone with MS a new chance at life.

Alexandre Normandin was diagnosed eight years ago, in his third year of medical school at McGill University.

He said what started out asa little numbness on his left temple, turned out to be rapidly progressing MS.

"The way it was going, it wouldn't be surprising, within months [or]years, to wind up in a wheelchair," he told .CBC'sDaybreakhost MikeFinnerty.

When he found out about an experimental bone marrow stem-cell transplant at the Ottawa General hospital in 2008,he didn't hesitate to sign up.

The treatment was risky Normandin had to go through 15 days of chemotherapy in order to completely wipe his immune system and eliminate themutation that caused his MS.

But it worked.

Years later,Normandin runshis own medical practice.

"The progression of the disease has been fully stopped I still have some fatigue, I still have some issues with balance, but in general compared with what the alternative would have been, I think it's a miracle cure," he said.

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Experimental multiple sclerosis therapy stops disease in its tracks

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