U.K. firm NightstaRx raised $45 million in a Series C financing round to support continued clinical development of its pipeline of retinal gene therapies, including a pending Phase III study with lead candidate NSR-REP1 for treating choroideremia. The new funds will also be used to support an ongoing Phase I/II study with NSR-RPGR in patients with X-linked retinitis pigmentosa (RP), and a proposed Phase I/II trial with a gene therapy product targeting an inherited form of macular dystrophy. Nightstar projects starting the macular dystrophy clinical trial during late 2018.

Investors in the Series C round included Nightstars existing investors Syncona and New Enterprise Associates (NEA) and new investors Wellington Management Company and Redmile Group. As an original investor in Nightstar, our goal from day one was to build a global gene therapy leader with the capability of developing multiple programs for inherited retinal diseases, commented Chris Hollowood, Ph.D., chairman of the board of Nightstar and chief investment officer of Syncona, which is funded by The Wellcome Trust. We welcome Wellington Management and Redmile Group as investors and look forward to working with them and NEA to fulfill Nightstars potential.

Founded in 2014 by researchers at the University of Oxford, Nightstar is developing a pipeline of one-time potentially curative treatments for rare inherited retinal diseases. Lead candidate NSR-REP1 is an adeno-associated virus (AAV) vector-based gene therapy in development for treating choroideremia, a rare X-linked inherited retinal dystrophy for which there are currently no disease-modifying therapies. The AAV vector is administered by injection under the retina, using standard surgical procedures performed under local anesthetic. Nightstar says a Phase I/II study carried out by the University of Oxford confirmed long-term benefits of the treatment including vision improvement or stabilization.

The firms AAV-vector-based NSR-RPGR gene therapy for X-linked RP is designed to deliver a normal copy of the RP GTPase regulator (RPGR) gene, which Nightstar says is mutated in more than 70% of cases of X-linked RP. The procedure similarly involves injecting the gene-carrying vector under the retina. The ongoing Phase I/II study with NSR-RPGR was started in March.

Nightstar has ongoing collaborations with the University of Oxford, the Bascom Palmer Eye Institute, and the Institute for Ophthalmic Research, Tbingen University Hospital. In February, the firm inked a collaboration with Netherlands-based Preceyes to develop a subretinal drug delivery technology based on the latters high-precision robotic device for ocular surgery.

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NightstaRx Raises $45M to Fund Phase III Study with Retinal ... - Genetic Engineering & Biotechnology News (blog)

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By RENEE WEBB rwebb@catholicglobe.org

As the use of stem cell research and therapy continues to expand, one medical research institute located in Iowa strives to uphold Catholic teachings in bioethics.

The John Paul II Medical Research Institute (JP2MRI), a non-profit of Iowa City, was founded by Dr. Alan Moy in 2007 to address a shortcoming when it came to pro-life values being upheld concerning a variety of medical practices and issues. The doctor also is co-founder and CEO of Cellular Engineering Technologies (CET), a for-profit biotechnology company that manufactures commercial adult stem cells and other biotechnology products.

He explained that JP2MRI was founded a year after starting CET to advance the application of adult stem technology to clinical applications in the area of neurodegenerative disease, rare disease, cancer and chronic diseases of unmet needs or in underperformed diseased areas. His concern was that the United States was falling behind other countries in the area of adult stem cell research.

Recently, through collaborative research by JP2MRI and CET, a new method for creating safer induced pluripotent stem cells, or iPSC, for clinical use was discovered.

We started work in traditional adult stem cells over a decade ago, Moy explained. The controversy was that among the secular scientific community, adult stem cells were viewed as inferior to embryonic stem cells because they could not convert or differentiate into the variety of cells that embryonic stem cells could.

When iPSC technology was discovered by a Japanese Nobel laureate scientist about 10 years ago, it was an ethical alternative to embryonic stem cells. iPSC are noncontroversial adult stem cells that are genetically reprogrammed into embryonic-like stem cells without using human embryos.

But that technology had inherent safety issues just like embryonic stem cells. Most embryonic stem cells and iPS cells have the risk of causing tumors because of their genetic instability, Moy said. What we worked on was trying to reduce the tumor risk.

Building on the original iPSC technology, JP2MRI and CET developed a method by using a variety of chemicals to replace known cancer-causing genes in the process.

Now we have an iPS technology that is safer, said Moy, who noted an added benefit is potential reduced cost in drug development.

Potential applications

He spoke about practical applications of this technology such as expanding the use of stored cord blood stem cells for future medical treatment if a disease develops in the child.

We have a means where we can take the cord blood and make an iPS cell which can have lifelong utility and diversity, Moy added.

For those who do not have stored cord blood, he said all is not lost as blood can be drawn and stored for people to create their own iPS cell for future use.

This technology can also provide a viable alternative to embryonic stem cells and aborted fetal tissue that are currently used by the pharmaceutical industry, noted Moy, to produce vaccines, gene therapy, cell therapy and protein therapeutics.

Right now with protein manufacturing, half of it is done using animal cells to produce human proteins, he explained. The problem is some of the human proteins that are produced have some minor animal characteristics and they are not entirely human so there is a push to produce purely human proteins out of human cells. Unfortunately, the vast majority of human cell lines used in protein manufacturing or in vaccine development are derived from aborted fetal tissue.

Moy anticipates there will increasingly be a movement to shift toward human cell manufacturing, and if we dont come up with non-controversial human cells, we are going to have a lot of controversial human protein therapeutics, gene therapies and vaccines that will be distributed at hospitals that must be administered by doctors.

Morals and ethics

This can create moral and ethical problems. Catholic hospitals and/or Catholic doctors will be forced to decide if they will use that type of product made with illicit cells.

We have to have alternative products that are equal or better than the products that are currently out there, said Moy.

The Catholic Church, as well as the average person, may not always be aware of the unethical nature of many of these products. Moy said he has been trying to communicate areas of concern to the Catholic community for years.

The evolution of biotechnology over decades has become secularized and the power is in the secularists, he said. Advancement of illicit-cell treatment and therapy is a serious potential threat to the Catholic health care system including Catholic hospitals and Catholics who are healthcare providers.

Moy feels strongly about Catholics and the church being pro-active in the bioethics arena.

The only way in which we can influence the biotechnology field is through innovation, he said. Through innovation, if you produce something they want that has technical advantage, then one can influence the direction of biotechnology. Pro-life individuals need to move from a passive bystander to an activist role.

That is part of the reason he founded the JP2MRI, which is grounded in a pro-life bioethics that respects the dignity of every human life. While more than 300 non-profit institutes and organizations engage in and support human embryonic stem cell research, JP2MRI seeks to find cures and therapies exclusively using a variety of adult stem cells and specifically the iPSC, which are derived from adult cells.

Moy said they are not only looking for ways to produce a variety of products using the safer iPS cells, but plan to license them so other scientists, companies and industries can take advantage of these cells to pursue more ethical biotechnology.

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Stem cells: JP2MRI, CET discover safer, more ethical biotechnology - Sioux City Catholic Globe

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An 11-year-old girl in Massachusetts is at the forefront of a disease so rare, that it is believed only 22 people worldwide have been diagnosed with it. Talia Duff, who was born with Down syndrome and later diagnosed with Charcot-Marie-Tooth Neuropathy Type 4J (CMT4J), is slated to be among the first to enroll in a clinical trial that is awaiting FDA approval after her parents refused to watch her fall victim to the degenerative genetic disease.

Its a horrible feeling to go to a doctor and be told that theres nothing that can be done that the best you can do is try to make your child comfortable and enjoy the time you have together, John Duff, Talias dad, told PEOPLE. I learned to cherish moments in life that I would otherwise take for granted.

PREGNANT MOM DELAYS CANCER TREATMENT TO PROTECT UNBORN TWINS

The Duff family, which includes mom Jocelyn and older sister Teaghan, had noticed Talia struggling to crawl at around age four, and a regression in a number of other motor skills that at the time was attributed to her Down syndrome, and later to Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP). Subsequent failed therapies and a diagnoses of osteoporosis due to prescribed steroids caused her parents to push for another diagnosis at Boston Childrens Hospital, according to a post on the familys Cure CMT4J Foundation website.

We learned that Talia did not in fact have CIDP but instead had an extremely rare form of Charcot Marie Tooth Disease a degenerative, genetic disease called CMT4J, the post read.

MEREDITH VIEIRA SPEAKS OUT ON 'SILENT' BONE DISEASE

The family learned the disease would slowly take over Talias body like a form of amyotrophic lateral sclerosis (ALS), eventually causing paralysis and robbing her of her ability to breathe. In the two years since her diagnosis, Talia lost her ability walk or even raise her arms.

We were supposed to sit back and watch our child live her life in reverse, the post on Cure CMT4J Foundation read. I decided not to accept this. I stayed up late nights pouring over scientific papers and booked appointments with the top CMT doctors in the world. We traveled to the University of Iowa and then Vanderbilt University, where we met Dr. Jun Li.

CHRISTIAN ROCKER RAISING FUNDS FOR BANDMATE WHOSE WIFE DIED HOURS AFTER CHILDBIRTH

It was at the meeting with Li that the Duffs learned of a genetic therapy that could potentially cure Talias disease, but that it was eight-to-ten years away from production. Knowing that time was of the essence for Talia, Jocelyn began connecting with other parent advocates and the family started the Cure CMT4J Foundation with a goal of raising $1 million for research. She met with a team of eight researchers in Maryland, who concluded that the gene therapy would have a lasting effect on Talia, and they are now working to attain proof of concept approval from the FDA, PEOPLE reported.

With approval expected to come later this summer, Jocelyn is prepared to then push for approval of a human clinical trial, with Talia expected to be among the first to receive the gene therapy intravenously.

We feel hope now, Jocelyn told PEOPLE. People have said to me, This is a lot of work for you, and my response is, Hey, you would do this for your child, too. I simply cant stand by and do nothing.

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Massachusetts girl may be among first-ever to receive gene therapy for rare disease after parents push for cure - Fox News

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Taylor Sabky spent this past Mothers Day in shock, absorbing the news that her toddler, Purnell, was dying. Hed been diagnosed days before with Niemann-Pick type A an ultra-rare genetic disease that typically kills children by age 3. It was inconceivable.

When wed look at him, he was smiling. He has such a sweet personality, she said. Its been really tough to imagine hes dying.

So she and her husband, Sam, made a vow:save Purnell.

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Thats the tagline of the couples wildly successful crowdfunding campaign, which has raised more than $600,000 in just over a month. The aim? To speed development of a one-shot experimental gene therapy that might, perhaps, treat their sons deadly neurodegenerative disease.

Rare diseases are increasingly attractive to biopharma companies, which can charge premium prices if they come up with a therapy. (One drug that just hit the market is priced at$750,000 for the first year of treatment.) But before theyll invest heavily in a field, companies want to see compelling early-stage science.

So families like the Sabkys are turning to the internet to raise money from friends and from total strangers to fund basic research at universities and hospitals.

A treatment for Zoe: Inside the race to build a therapy for a devastating rare disease

It seems the rare disease space is a lucrative, pretty sexy space for companies. But theres still too much risk, in our opinion, for a company to just jump in, said Steven Laffoon, who runs the Wylder Nation Foundation, a nonprofit that focuses on spurring research into Niemann-Pick.

The foundation is helping families like the Sabkys fundraise and funnel money to researchers, in hopes that theyll be able to push the science to a point where we can maybe spark some industry interest to take that path to the finish line, Laffoon said.

It doesnt take huge sums to make a dent: Just $100,000, given to the right lab, can go a long way toward developing a novel compound or screening the existing library of drugs for one that might be useful against a particular rare disease, said Arvin Gouw, vice president of research at the nonprofit Rare Genomics Institute.

The key thing about the families is, they can give you funds early, before [the National Institutes of Health] would be ready to give you that additional funding, saidDr. Elliott Sherr, a pediatric neurologist at the University of California, San Francisco. Some of his research into a rare genetic disorder was subsidized by patients crowdfunding campaigns.

Even better than the funds, he said, is the awareness that comes when a patients family goes public with pleas for research. In just two years, family activism helped bring forward more than 60 patients with the rare genetic mutation he studies, known as DDX3X. Having such a large pool of patients available to participate in trials accelerates the research process, he said and thats a big deal for a disorder that was essentially undiscovered just two years ago.

No matter how much they raise, however, the families know they must always temper their expectations.

Its a long and often heartbreaking path from early glimmers of hope in a lab to actual therapies that help patients in the clinic. Many drugs that show promise in rodents fizzle when tested in humans. And though rare disease treatments typically get speedier review at the Food and Drug Administration, it can still take years to get a product from lab to market.

So for all these families, its a long shot that theyll be able to save their own children.

The hope, of course, is that some other child might benefit where theirs did not.

As an infant, Purnell Sabky was slow to hit developmental milestones. His parents didnt think much of it. But at Purnells 6-month checkup, his pediatrician noticed that his liver was enlarged leading them to the doorstep of the Boston Childrens Hospital genetics department.

After a battery of tests, they got a diagnosis: Niemann-Pick type A, a disease with zero options for treatment.

We left with a death sentence, basically: Go home and love your kid, said Taylor Sabky, who is 29 and teaches math to immigrant students in the Boston area. Sam Sabky, also 29, runs a gourmet coffee startup called Kings Row Coffee. The two met as undergrads at Princeton University; Purnell is their first child.

We left with a death sentence, basically.

Niemann-Pick belongs to a family of rare diseases called lysosomal storage disorders. A mutation in the SMPD1 gene leads to a dearth of an enzyme, sphingomyelinase, which in turn leads to a buildup of a type of fat called sphingomyelin. This overload of bad fats winds up killing cells, particularly in the brain, lungs, spleen, and liver.

There are four types of the disease: type A, B, C1, and C2. Purnells variety, type A, is as rare as it gets, Sam Sabky explained and by far the worst.

As the family processed that horrifying news, they also started to dig deeper into the science behind the disease.

We found out that there was research for this gene therapy treatment, and it was closer than we thought. The barrier was just funding, Taylor said. That turned a hopeless situation into a hopeful one.

My daughter is fighting a rare disease. A streamlined FDA wont help her

With the help of the Wylder Nation Foundation, the Sabkys quickly learned that researchers at the University of California, San Francisco, had developed a virus containing a gene that could correct the enzyme deficiency in patients with Niemann-Pick type A.

But its costly and time-consuming to multiply that virus enough times to make an impact when its injected into a patient.

The research team needed about half a million dollars to take that next step. So the Sabkys made a moving video showing Purnell, whos now 14 months old, laughing in his high chair and cuddling with his mom and dad. They posted it on the crowdfunding site GoFundMe, set a goal of raising $750,000 by the end of June, and worked with a public relations firm to pitch their story to local and national media.

It worked: In the past month, news outlets ranging from Boston television news stations to People magazine have covered Purnells story.

Weve definitely taken a business approach here. Sam and Taylor have been very strategic, for instance, in how and when they put out social media posts about Purnell, said Laffoon, Wylder Nations founder. And all kinds of wonderful people have come out of the woodwork to help.

All kinds of wonderful people have come out of the woodwork to help.

Steven Laffoon, founder of Wylder Nation Foundation

The first donations came in within hours. So far, the Sabkys have collected more than 8,000 pledges, many of them anonymous, in amounts ranging from $10 to $10,000.

Among the most touching contributions have been small donations from the children Taylor Sabky teaches. One student, who lives in a homeless shelter, gave $10 to the cause and said she was sorry she couldnt give more. Taylor Sabkys desk is filled with posters and inspirational letters from people who want to help save her son.

About $500,000 of the money raised by the Sabkys will fund research at Childrens Hospital of Philadelphia to create the viral vector that could deliver the gene therapy to patients.

Thats projected to take about six months an eternity when dealing with a fast-moving neurodegenerative disease like Purnells. But the vector isnt meant exclusively for Purnell: Theyre looking to manufacture enough for a full Phase 1/2 trial that could enroll six to eight patients.

In the meantime, theres a ton of red tape to sift through: The Sabky family needs to get permission from the FDA to allow Purnell to take part in this experimental gene therapy. The researchers, too, need regulatory approval to run the clinical trial. Some of the crowdfunded money will be used to prepare those applications.

This toddler with a rare disease got a life-changing treatment. Why cant all kids?

The family will also likely appeal to the FDA to allow Purnell to take a drug from Genzyme that was developed for a different form of the disease, Niemann-Pick type B. The Sabkys hope to slow the course of Purnells disease with whats essentially an off-label therapy.

Its nice to know that there are steps we can take: Were not just winging it, Sam Sabky said. Right now, theres a chance everything will line up. Its not a great chance, but a chance so we have to take it.

One of the most successful crowdfunding campaigns for rare disease was led in recent years by the parents of Eliza ONeill.

They raised more than $4 million to speed up research for Sanfilippo syndrome, another lysosomal storage disorder, with about $2 million coming directly from a crowdfunding campaign. This helped Eliza, who has the disease, get access last May to an experimental gene therapy from Cleveland biotech Abeona Therapeutics. The trial is very small, and results are preliminary, but patients so far seem to be responding.

Then there are Leena and Anil Panwala, who have raised more than $150,000 to support research for their daughter, Ariya, whowas diagnosed last year with a genetic disease called infantile neuroaxonal dystrophy, or INAD.They dont want to leave it up to the whims of pharmaceutical companies or federal grant reviewers to determine which research gets funded.

Thats our biggest motivation for starting our foundation and raising the money: Were making sure the control comes from families affected by INAD, Leena said. It allows us to get more and more scientists researching this particular mutation and get more accountability from the researchers.

Right now, theres a chance everything will line up. Its not a great chance, but a chance so we have to take it.

Unlike the Sabkys, the Panwalas arent focusing on pushing forward a single avenue of research. A gene therapy has potential, but Leena Panwala has seen this treatment method fail in patients.That opened our eyes to not put our eggs in one basket, she said.

So one of the Panwalas initial aims is to create a postdoctoral position focused exclusively on the disease at a university where research for an INAD gene therapy is already underway. Next year, theyll also sponsor a $100,000 research grant through the Rare Genome Institute.

The family plans to continue to raise money in their daughters name. Theyll fund enzyme replacement therapy, research into supplements, further study of existing drugs anything that might give Ariya a chance.

The Sabkys know that gene therapies for lysosmal storage disease will be far more effective the earlier theyre administered before the lipids have had too much time to accumulate in the body.

By the time the treatment is ready to test, Purnells disease may have already progressed too far for him to benefit. The Sabkys know that. But they keep pushing.

We know there will be a point where hes too far gone neurologically for the treatment to work, Sam Sabky said. Gradually hell become distant, and lose his smile and laugh. Thats really the saddest part were racing against.

Meghana Keshavan can be reached at Meghana.Keshavan@statnews.com Follow Meghana on Twitter @megkesh

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Their children are dying. So these families are racing to raise money for research no one else will fund - STAT

Recommendation and review posted by simmons

June 29, 2017 A CRISPR protein targets specific sections of DNA and cuts them. Scientists have turned this natural defense mechanism in bacteria into a tool for gene editing. Credit: Jenna Luecke and David Steadman/Univ. of Texas at Austin

Scientists from The University of Texas at Austin took an important step toward safer gene-editing cures for life-threatening disorders, from cancer to HIV to Huntington's disease, by developing a technique that can spot editing mistakes a popular tool known as CRISPR makes to an individual's genome. The research appears today in the journal Cell.

Scientists already use the gene-editing tool called CRISPR to edit the genetic code of nearly any organism. CRISPR-based gene editing will have an enormous impact on human health. More than a dozen clinical trials employing CRISPR on human cells are reportedly already underway, but the approach is imperfect. In theory, gene-editing should work much like fixing a recurring typo in a document with an auto-correct feature, but CRISPR moleculesproteins that find and edit genessometimes target the wrong genes, acting more like an auto-correct feature that turns correctly spelled words into typos. Editing the wrong gene could create new problems, such as causing healthy cells to become cancerous.

The UT Austin team developed a way to rapidly test a CRISPR molecule across a person's entire genome to foresee other DNA segments it might interact with besides its target. This new method, they say, represents a significant step toward helping doctors tailor gene therapies to individual patients, ensuring safety and effectiveness.

"You and I differ in about 1 million spots in our genetic code," says Ilya Finkelstein, an assistant professor in the Department of Molecular Biosciences at UT Austin and the project's principal investigator. "Because of this genetic diversity, human gene editing will always be a custom-tailored therapy."

The researchers took a DIY approach to developing the equipment and software for their technique, using existing laboratory technology to develop CHAMP, or Chip Hybridized Affinity Mapping Platform. The heart of the test is a standard next generation genome sequencing chip already widely used in research and medicine. Two other key elementsdesigns for a 3-D printed mount that holds the chip under a microscope and software the team developed for analyzing the resultsare open source. As a result, other researchers can easily replicate the technique in experiments involving CRISPR.

"If we're going to use CRISPR to improve peoples' health, we need to make sure we minimize collateral damage, and this work shows a way to do that," says Stephen Jones, a postdoctoral researcher at UT Austin and one of three co-lead authors of the paper.

Andy Ellington, a professor in the Department of Molecular Biosciences and vice president for research of the Applied Research Laboratories at UT Austin, is a co-author of the paper. He says this method also illustrates the unpredictable side benefits of new technologies.

"Next generation genome sequencing was invented to read genomes, but here we've turned the technology on its head to allow us to characterize how CRISPR interacts with genomes," says Ellington. "Inventive folks like Ilya take new technologies and extend them into new realms."

This work can also help researchers predict which DNA segments a certain CRISPR molecule will interact with even before testing it on an actual genome. That's because they're uncovering the underlying rules that CRISPR molecules use to choose their targets. For example, they found that the CRISPR molecule they tested, called Cascade, pays less attention to every third letter in a DNA sequence than to the others.

"So if it were looking for the word 'shirt' and instead found the word 'short,' it might be fine with that," says Jones.

That sounds counterintuitive, but can be really useful. CRISPR originated from a natural defense in bacteria used to guard against invading viruses that evolve rapidly. A good defense sees through slight changes in the viral genetic code.

Knowing these rules will lead to better computer models for predicting which DNA segments a specific CRISPR molecule is likely to interact with. And that can save time and money in developing personalized gene therapies.

Explore further: Modifying fat content in soybean oil with the molecular scissors Cpf1

More information: Cell (2017). DOI: 10.1016/j.cell.2017.05.044 , http://www.cell.com/cell/fulltext/S0092-8674(17)30637-2

Journal reference: Cell

Provided by: University of Texas at Austin

A team from the Center for Genome Engineering, within the Institute for Basic Research (IBS), succeeded in editing two genes that contribute to the fat contents of soybean oil using the new CRISPR-Cpf1 technology: an alternative ...

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Picture bacteria and viruses locked in an arms race. For many bacteria, one line of defense against viral infection is a sophisticated RNA-guided "immune system" called CRISPR-Cas. At the center of this system is a surveillance ...

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Worker and queen honeybees exposed to field realistic levels of neonicotinoids die sooner, reducing the health of the entire colony, a new study led by York University biologists has found.

Scientists from The University of Texas at Austin took an important step toward safer gene-editing cures for life-threatening disorders, from cancer to HIV to Huntington's disease, by developing a technique that can spot ...

If aliens sent an exploratory mission to Earth, one of the first things they'd noticeafter the fluffy white clouds and blue oceans of our water worldwould be the way vegetation grades from exuberance at the equator ...

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New technique enables safer gene-editing therapy using CRISPR - Phys.Org

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LOWELL -- Alcyone Lifesciences, a small biotechnology company operating out of Mill No. 5, will partner with pharmaceutical giant Pfizer to study a new method of treating neurological disorders such as ALS, Alcyone's chief executive said Thursday.

Alcyone CEO PJ Anand said his company had finalized a deal with Pfizer to begin a roughly eight-month research program using a Pfizer molecule and Alcyone technology in August. No financial terms of the agreement were disclosed.

"We're pretty excited about this deal we did with Pfizer," Anand said in an interview. "It's a significant investment in disease-modifying therapies. It's going to the root cause of the disease and treating that."

A representative from Pfizer could not be reached for immediate comment Thursday.

The pre-clinical feasibility study will use a molecule developed by Pfizer that could theoretically correct genetic mutations behind several debilitating neurological disorders. However, Anand said it can be challenging to get the treatment into position with more conventional techniques.

That's where Alcyone comes in: the research will use Alcyone's "Pulsar platform," a technique the company developed to transport molecules directly to the brain, alongside Pfizer's treatment. Anand likened it to Pfizer providing a package and Alcyone providing an instant-delivery drone that could drop the package off right on a doorstep.

"You need something advanced as well as precise because you don't want to contaminate the good parts of the brain," he said.

The process is a form of gene therapy, an emerging and experimental way of treatment that attempts to bring relief or even a cure by altering DNA itself to fix mutations that cause disorders. Alcyone and Pfizer's partnership will use the technique to examine the feasibility of treating neurological disorders including ALS and congenital childhood seizures.

"What happens here is a one-time shot that you go and make the patient feel substantially better or cure the patient," Anand said.

Alcyone was founded in 2010 and operated in Concord and Ayer before moving to Lowell's Boott Mills complex in 2014. The company did not receive funding from the city or UMass Lowell, but it did win a $750,000 loan from the Massachusetts Life Science Center's Accelerator Program.

Anand expressed hope that the study with Pfizer -- as well as an earlier, separate deal to research technology to treat brain cancer -- would create new opportunities for growth for the company, which currently employs nine people.

Operating out of the Mill No. 5 building, Alcyone is part of the Hamilton Canal Innovation District that has experienced some struggles in finding momentum. Last week, city officials invited developers and real-estate leaders to the district for a presentation on the opportunities available.

Anand said he hopes city officials will also make "concerted efforts" to promote biotechnology breakthroughs taking place in the Mill City and to attract new investments in the area.

"This could be a wonderful spot for that," he said. "It would be great to see the city push that."

If his company expanded, Anand said he hopes to stay in Lowell, but that a lack of accessible parking today could pose a challenge. A 900-spot parking garage in the HCID is being designed, and city officials hope that will relieve some pressure."

"(Parking) is not just expensive, but it's unreliable, and I think it's disruptive," Anand said. "Parking is going to be the biggest issue to me."

Follow Chris on Twitter @ChrisLisinski

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Lowell biotech company Alcyone announces research deal with Pfizer - Lowell Sun

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You may have heard stories that men will go to crazy lengths to addinches onto their penis, but a recent case study from Pakistan showsone method that actually worked. The 34-year-old patientdid not produce enough testosterone due to a pre-existing condition.However, after testosterone injections over the course of ninemonths, the mans penis nearly doubled in length.

According to the case study published in the BMJ Case Reports, the man was diagnosed with hypogonadism, a condition where his body does not produce enough testosterone. The man had originally gone todoctorswith concerns about his lack of facial and body hair, but closer examination revealed a significant problem with his penis and testicle size. As a result of his condition, he never fully developed, was unable to grow a beard or armpit and pubic hair, had very few erections, and an extremely small penis1.9 inches when stretched. In addition, he also had very small testicles, about half the size of the average mans.

Read: Do You Have The Right Amount Of Testosterone In Your Body? Normal Range Of Male Sex Hormone Revealed In Landmark Study

The patient was given hormone injections over a period of nine months, andhis penis length nearly doubledto 3.7 inches. His testicles also doubled in size, IFLscience reported.

This is very much a case of do not try this at home, IFL Science emphasized. The mans case was rare and the same treatment would likely not help lengthen the penis of an otherwise healthy male.

According to The Mayo Clinic, male hypogonadism can begin during fetal development, before puberty, or even during adulthood. In the case of adult hypogonadism, the condition can cause erectile dysfunction, infertility, decrease in beard and body hair growth, decrease in muscle mass, development of breast tissue, and loss of bone mass. The condition can also cause mental and emotional changes similar to those women may experience during menopause. These may include fatigue, decreased sex drive, difficulty concentrating, and hot flashes, The Mayo Clinic reported.

Hypogonadism is marked by inadequate testosterone production, but this can either be caused by a problem with the testicles, or a problem with the pituitary gland. The condition can also lead tomore serious complications than just a small penis, such asambiguous or abnormal genitalia, and unproportional growth of the arms and legs when compared to the rest of the body.

Hypogonadism is usually treated with some type of hormone replacement therapy to make up for the lack of testosterone, whether this be an injection, patch, gel, gum, tablet, or nasal spray. However, this treatment also carries a number of risks, such as prostate growth, enlarging of breasts, problems with sperm production, and the formation of blood clots.

See Also:

7 Ways To Naturally Boost Testosterone Levels In Men, From Alcohol Intake To Sleep Routines

Testosterone May Protect Against Allergic Asthma In Men: Male Sex Hormone Holds Key To Asthma Treatments

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Man Doubles Penis Size After Testosterone Injections To Treat Hypogonadism Condition - Medical Daily

Recommendation and review posted by simmons

The man presented with a lack of facial hair and a five centimetre penis

SOME men will go to great lengths to add inches to their manhood.

From penis pumps to pills and lotions, there are many products on the market that claim to add length and girth to a mans member.

Getty Images

But a recent study from Pakistan suggests one method actually works hormone injections.

A 34-year-old man went to an endocrine (hormonal) clinic complaining of a lack of facial and pubic hair.

Further examination found his pituitary gland responsible for secreting hormones into the body was functioning as normal but he had a lack of testosterone in his body.

Testosterone is the male sex hormone and plays a key role in the development of the testicles and secondary sexual characteristics like body hair.

The patients lack of testosterone caused his lack of facial and pubic hair as well as decreased early morning erections and delayed ejaculation, doctors noted.

His penis measured just five centimetres long, according to the case study published in the BMJ.

The patient was prescribed testosterone injections and after nine months his penis length grewto the average size of a man his age around 7-10 centimetres.

The mans testosterone levels remained at a normal level after he finished the course of treatment and he was advised to stop the injections.

The patient presented to the clinic with a condition known ashypogonadism a condition where the male body does not produce enough testosterone.

Men suffering hypogonadism may also have an impaired ability to produce sperm, according to the Mayo Clinic.

Patients may be born with the condition but in some cases it can develop later in life.

Symptoms of the condition depend on when hypogonadism developed.

If the body doesnt produce enough testosterone during foetal development then a man may have impaired growth of his penis and testicles.

A child who is genetically male but has the condition may be born with; female genitals, ambiguous genitals or underdeveloped male genitals.

If the conditions strikes during puberty it can cause; decreased muscle mass, lack of body hair, lack of a deep voice, smaller penis and testes and development of breast tissue.

If it strikes during adulthood it can cause erectile dysfunction, infertility, decreases in beard and body hair growth and the development of breast tissue.

Getty Images

Hypogonadism can be caused by a problem with the testicles, which produces testosterone, or a problem with the pituitary gland, which signals to the testes to produce testosterone.

Treatment usually involves hormone replacement to make up for the lack of testosterone.

This can come in injections, patches, gums, gels and nasal sprays.

But the treatment isnt without risks.

It can contribute to sleep apnea, stimulated growth of the prostate, enlarged breasts, limited sperm production, blood clots and heart attack.

We pay for your stories! Do you have a story for The Sun Online news team? Email us attips@the-sun.co.ukor call 0207 782 4368

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Man, 34, 'DOUBLES the size of his penis in nine months thanks to hormone injections' - The Sun

Recommendation and review posted by Bethany Smith

A regenerative medicine startup led by a Mayo Clinic cardiologist is setting up shop in a downtown Rochesters Minnesota BioBusiness Center, according to newly filed city documents. The filing indicated Rion LLC, a Minnesota company registered to Dr. Atta Behfar of the Mayo Clinic Center for Regenerative Medicine, has signed a three-year lease for just over 2,000 square feet at the city-owned BioBusiness Center. The lease begins July 1. The nine-story BioBusiness Center opened in downtown Rochester in 2007 as a center for innovation in biotechnology, promoting the linkages between the researchers and practitioners at Mayo Clinic; instructors and students at the University of Minnesota Rochester, and the biotechnology business community. It houses the Mayo Clinic Business Accelerator among other tenants. Behfar is an assistant medical professor and leads a laboratory at Mayo concentrating on applying regenerative medicine the practice of using stem cells to regenerate damaged or missing tissue to prevent and cure chronic heart conditions. Specifically, his group focuses on development and use of both stem cells and protein-based therapies to reverse injury caused by lack of blood flow to the heart. The business direction of Rion, meanwhile, appears to be specifically geared toward a cutting-edge development in the field of regenerative medicine the use of extracellular vesicles (EVs) in speeding and directing the growth of regenerating tissues in the heart and elsewhere in the body. EVs, long brushed off by researchers as mere debris in the bloodstream, are membrane-enclosed spheres that break off from the surfaces of nearly all living cells when disturbed. They transport lipids, proteins and nucleic acids, and have now been found to be important players in cell-to-cell communication, influencing the behavior and even the identity of cells. Their emerging role in regenerative medicine could potentially be huge. For instance, by bioengineering them to transport protein payloads from stem cells, they can be used to signal the bodys own cells to regenerate tissue instead of transplanting the stem cells themselves, thus eliminating the chance of host immune system rejection. A patent application filed last year by Rion, Behfar, Mayo Center for Regenerative Medicine Director Dr. Andre Terzic and two other local inventors is aimed at adapting the healing properties of a specific type of EV into a unique kind of product that could have wide applications. It focuses on EVs derived from blood platelets, which are well known to stop bleeding, promote the growth of new tissues and blood vessels, relieve inflammation and provide a host of other benefits. The patent describes a system of encapsulating platelet EVs derived from human or animal blood into a platelet honey and delivering it to target areas of the body, such as damaged tissues or organs. Its purported effect is to regenerate, repair and restore damaged tissue, with possible uses including treating heart disease; healing damaged bones or joints; wound treatment; and cosmetic skin applications. A brief business description provided by Rion to Rochester city officials stated the company is focused on the delivery of cutting edge regenerative technologies to patients at low cost and in off-the-shelf fashion. Building on initial research at Mayo Clinic, Rion LLC aims to develop and bring to practice products in the space of wound healing, orthopedics and cardiac disease. The statement also added the company is an enthusiastic backer of Rochesters efforts to develop a local biotech business cluster, and is seeking to participate in the realization of the Destination Medical Center initiative.

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Mayo-Connected Regenerative Medicine Startup Inks Downtown Rochester Lease - Twin Cities Business Magazine

Recommendation and review posted by simmons

Free Press Lions beat writer Dave Birkett answers your Twitter questions in a video mailbag June 26, 2017, before summer vacation.

Detroit Lions linebacker Paul Worrilow with daughters Juliet, left, and Rowan, right.(Photo: Paul Worrilow)

Paul Worrilow has a great back story.

The veteran linebacker, who signed with the Lions in March, was undrafted out of Delaware.

He made the Atlanta Falcons, against all odds.

Cracked the starting lineup, against all odds.

Became the teams leading tackler, against all odds.

Stuck around for four seasons, against all odds.

But theres more.

Its a story about being selfless and thinking about others. Its a story that should be repeated, if only to inspire others to follow his lead.

More Lions news:

Detroit Lions CBs coach: Interceptions 'will come' for Darius Slay

And it started with a simple cheek swab.

Its so simple, Worrilow said.

When Worrilow was a sophomore at Delaware, he joined the Be The Match Foundation Registry, hoping to become a bone marrow donor.

Four months later, he was matched with a 23-year-old woman with leukemia.

Worrilow donated peripheral blood stem cells to the woman, although he doesnt know what happened to her. He doesnt know her name. He never has met her.

Its so simple, Worrilow said. They do a cheek swab. You get put in the database. If you match somebody, there are two ways to do it. You can donate actual bone marrow or do it like I did, peripheral blood stem cells.

Lions linebacker Paul Worrilow takes part in OTAs on Wednesday, May 24, 2017 at the Allen Park practice facility.(Photo: Kirthmon F. Dozier, Detroit Free Press)

About one in 40 registry members will be called for additional testing.

About one in 300 will be selected as the best possible donor for a patient.

And about one in 430 on the registry go on to donate bone marrow or peripheral blood stem cells.

Odds are, you never will be asked to donate.

But you just might give somebody hope.

Its so simple, Worrilow said. Its not painful. Its a small part of your time, to have a great impact, a tremendous impact on another person and their family. Its a no-brainer. You can have a great impact at such a small cost to yourself.

Worrilow is on a mission to let people know about it: The cool part about it is being able to share it (with people) who are ignorant to the process and their ability to help other people. Encouraging people. People who just dont know what Be The Match Foundation is. Or how you can help people with blood cancers, or how you can join.

Worrilow signed with the Lions during the off-season.

This team is tremendous, Worrilow said. The family-oriented vibe here. From the head coach, from the ownership on down, you can feel it. Its a family vibe. They look after you, care for you.

In June, during minicamp, Worrilow played weak-side linebacker. But he can also play in the middle.

Its going good, he said. There is a lot of competition. The team is great that way, pushing each other. Any action I can get on the field is exciting. When youre winning games, and everyones in here practicing hard, its just awesome.

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Worrilow has a track record for good tackling, but he has been criticized for his inability to cover.

If (the criticism) is there, its probably there for a reason, he said. Criticism, if it doesnt come from a bad place, it is probably warranted. And thats something I have to improve on. Thats with all parts of my game. I dont feel like I have played my best football yet.

Worrilow said he is adjusting to the Lions defense, making defensive calls.

Compared to the other places Ive played, there is a bigger volume of calls, he said. Thats something I like. Both linebackers do it. One guy has the indicator, but if you are not out there talking, you arent going to be out there.

And now, as he takes time off before training camp, he feels confident about himself and this team.

I dont feel like I could be in a better place, life-wise, work-wise, everything, he said. Its an encouraging place to come in and work every day. The linebacker group is awesome. Its young. Its competitive. Thats what you want.

So, this guy keeps breaking the odds.

Sticking in the NFL. And trying to use that platform to help others.

Trying to raise awareness.

Trying to encourage people to make a difference.

Trying to break the odds.

Help us, Detroit Lions: You are Detroit sports fans' only hope right now

For new Detroit Lions LB Paul Worrilow, dad duties come first

Contact Jeff Seidel: jseidel@freepress.com. Follow him on Twitter @seideljeff. To read his recent columns, go to freep.com/sports/jeff-seidel/.

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Detroit Lions' Paul Worrilow has beaten odds, inspires others to help - Detroit Free Press

Recommendation and review posted by sam

AVERY Beal has seen more suffering in her three short years than many people see in a lifetime.

The plucky toddler was diagnosed with Acute Lymphoblastic Leukaemia in August 2014 and has been fighting for her life ever since.

In the last three years, she has lived through chemotherapy, stem cell transplants, and bone marrow transplants.

It's been a rough few years on the rest of the family too.

Avery's mum Jen has spent the last two and a half years living in between the Beal family home on the Sunshine Coast and Lady Cilento's Children Hospital in Brisbane to care for Avery's medical needs.

Dad David has cared for the couple's other five children on the Coast, working to support them while home schooling their autistic twins.

To top it all off, Mr Beal said the family was recently given no choice but to move house after their lease ended.

Despite the tumultuous last few years, the ordeal might finally be over for Avery - although she's still very high risk, doctors have deemed her well enough to come home.

"Avery's been doing really good," Mr Beal said.

"She managed to get transplant stem cells from a baby's (umbilical) cord from another country.

"She managed to get to day 100 after the transplant, which at that stage doctors were happy for Jen and Avery to come home."

Avery had a second bone marrow transplant in March after her first one failed to stimulate Avery's blood cells to create healthy cells instead of cancerous ones.

"We're feeling good but the challenge is that she's still so high risk," Mr Beal said.

"With children, they'll generally speaking only do two bone marrow transplants.

"If it does come back there is literally nothing they can do. They would just make her comfortable.

"At the moment, we have tests done on her bone marrow every month so see that she's still cancer free."

Yesterday Avery had her central line - a long, thin, flexible tube used to give medicines, fluids, nutrients, or blood transfusions -removed for the first time since her diagnosis in 2014.

The bubbly three-year-old will finally be able to go swimming - an experience that Avery has missed out on living on the Sunshine Coast.

Although the spritely tot has an 85% chance of relapsing, the family are confident that this is a good sign.

Despite all life has thrown at her, Avery is a happy child that lights up the lives of those around her.

"She's just incredible," Mr Beal said.

"It just amazes me over and over again how amazing she is on top of the treatments and the drugs; I think she's on eight different meds every morning and evening."

Mr Beal said the biggest hurdle the family currently face is the cost of Avery's multiple medications.

"She had a number on different things to get her body to a place for the transplant she's had in march," he said.

"Since then she's been on lots of different meds to make sure her body doesn't reject the transplant.

"For us finances are the biggest thing.

"Now that Avery is out of hospital we have to pay for medication and Jen's still having to do trips to Brisbane every week or fortnight"

To help the Beals visit http://www.facebook.com/averysupport.

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Glimmer of hope in Avery's heartbreaking cancer battle - The Sunshine Coast Daily

Recommendation and review posted by sam

Honghao Zhang,1,2 Satoshi Komasa,1 Chiho Mashimo,3 Tohru Sekino,4 Joji Okazaki1

1Department of Removable Prosthodontics and Occlusion, Osaka Dental University, Hirakata, Osaka, Japan; 2Department of Stomatology, Nanfang Hospital and College of Stomatology, Southern Medical University, Guangzhou, Guangdong, China; 3Department of Bacteriology, Osaka Dental University, Hirakata, 4The Institute of Scientific and Industrial Research, Osaka University, Suita, Osaka, Japan

Purpose: Alkali-treated titanium with nanonetwork structures (TNS) possesses good osteogenic activity; however, the resistance of this material to bacterial contamination remains inadequate. As such, TNS implants are prone to postoperative infection. In this work, we attempted to alter the biological properties of TNS by treatment with short-duration high-intensity ultraviolet (UV) irradiation. Methods: TNS discs were treated with UV light (wavelength =254 nm, strength =100 mW/cm2) for 15 minutes using a UV-irradiation machine. We carried out a surface characterization and evaluated the discs for bacterial film formation, protein adsorption, and osteogenic features. Results: The superhydrophilicity and surface hydrocarbon elimination exhibited by the treated material (UV-treated titanium with a nanonetwork structure [UV-TNS]) revealed that this treatment effectively changed the surface characteristics of TNS. Notably, UV-TNS also showed reduced colonization by Actinomyces oris during an initial attachment period and inhibition of biofilm formation for up to 6 hours. Moreover, compared to conventional TNS, UV-TNS showed superior osteogenic activity as indicated by increased levels of adhesion, proliferation, alkaline phosphatase activity, osteogenic factor production, and osteogenesis-related gene expression by rat bone marrow mesenchymal stem cells (rBMMSCs). This inverse relationship between bacterial attachment and cell adhesion could be due to the presence of electronhole pairs induced by high-intensity UV treatment. Conclusion: We suggest that simple UV treatment has great clinical potential for TNS implants, as it promotes the osseointegration of the TNS while reducing bacterial contamination, and can be conducted chair-side immediately prior to implantation.

Keywords: implant, nanonetwork, postoperative infection, UV treatment, superhydrophilicity, osteointegration

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Effect of ultraviolet treatment on bacterial attachment and osteogenic activity to alkali-treated titanium with ... - Dove Medical Press

Recommendation and review posted by Bethany Smith

Dr. Efraim Jaul, director of geriatric skilled nursing at Herzog Hospital in Jerusalem, noticed that many patients with dementia and especially those with Alzheimers disease seemed more prone to developing pressure ulcers (bedsores).

It occurred to him that perhaps the significantly higher incidence of bedsores was not simply a result of the immobility of advanced dementia patients, as is commonly assumed.

I wondered if they were really distinct diseases or if there could be any connection between them, he tells ISRAEL21c.

Quantifying the phenomenon in his own hospital, Jaul found that 76 percent of geriatric patients with pressure ulcers had dementia, whereas only 32% of patients without pressure ulcers had dementia.

He has published three research papers over the past few years showing a clear link between dementia and pressure ulcers.

Jaul says that his groundbreaking discovery is unique.

Thats because we looked at advanced dementia, while almost all research is focused on early dementia and how to prevent its progression, he explains.

Its in the skin

Jaul was the lead author of papers about the dementia-pressure ulcers link that appeared in International Wound Journal in 2013 and in the Journal of Experimental Aging Research in 2016.

Earlier this year, Jaul and Oded Meiron a cognitive neuroscientist who heads the Electrophysiology and Neuro-cognition Lab in Herzogs Clinical Research Center for Brain Sciences published an article in the Journal of Alzheimers Disease outlining their theory about why the two seemingly unrelated conditions are related.

They suspected that the abnormal changes in the brain that lead to dementia are not localized but actually occur at the same time in other body systems. And thats exactly what some neurodiagnostic teams have found.

Working with NeuroDiagnostics in Baltimore, which is developing a test to identify a biomarker for abnormal cell density in the skin of dementia patients, Meiron and Jaul suggest that changes in the skin of dementia patients likely make them more susceptible to wounds.

We expect to see these changes happening even with mild cognitive impairment, Meiron tells ISRAEL21c.

This makes sense, he explains, because skin tissue and brain tissue derive from the same embryonic stem cells.

Jaul presented the theory at a recent conference of the Israel Gerontological Society. We got a lot of interest from other clinicians, he reports.

Two ways to use this information

The practical implications of Jaul and Meirons theory are two-fold.

For caregivers of mild or moderate dementia patients, understanding the heightened danger of developing bedsores will encourage a more aggressive preventative approach while dementia is still mild or moderate. Frequent changes of position and other measures can be taken to keep sores from forming.

From a research point of view, Meiron hopes to advance clinical studies of NeuroDiagnostics skin test for the purpose of pinpointing an individuals type and stage of dementia and noninvasively (and inexpensively) suppressing its progression using novel safe neuromodulation interventions.

If we look at peripheral biomarkers instead of inside the brain, we can identity or have a good idea of what is happening in the brain as well, on the cellular level, he says.

The biomarkers significantly differentiate between elderly controls and Alzheimers patients. There are also biomarkers for other types of dementia but that needs to be further validated.

If validated by clinical trials, the skin test could be a powerful tool for early detection and specific diagnosis since not all forms of dementia require the same treatment.

Having this information will help clinicians prescribe appropriate therapies to slow or stop dementia from advancing to the stage where pressure ulcers and debilitating cognitive impairments can have deadly consequences.

If we identify these early stages we can intervene and delay accelerated cognitive decline. The skin markers are important but the goal is increased quality of life, says Meiron, who also is involved in a few clinical studies that introduce this idea in the field of aging and pre-dementia research.

Link:
Israeli doctors find link between Alzheimer's and bedsores - ISRAEL21c

Recommendation and review posted by sam

The research studies carried out by John B. Gurdon (Anglo-Saxon) and Shinya Yamanaka (Japanese) were awarded the Nobel Prize in Medicine. These two scientists are considered of being the fathers of cellular reprogramming. They have achieved to create cells that behave identically to embryonic cells, however, without having to destroy human embryos. The Swiss Academy declared that both Gurdon and Yamanaka have revolutionized the current knowledge of how cells and organisms are developed, which has led to the perfection of the absurd methods of diagnosis and therapy.

Jhon Bertrand Gurdon, professor of the Zoology Department of the University of Cambridge, admitted of feeling extremely honored for such a spectacular privilege.

Moreover, Shinya Yamanaka discovered the so called induced pluripotent stem cells (iPS), which have the same proprieties of the embryonic ones and are able to turn into whatever other type of body cell. He asserted that he will continue to conduct research in order to contribute to society and medicine. For him that is a duty.

Yamanaka created four types of genes that supply cells with their pluripotentiality, in other words, the same capacity that embryonic stem cells have. If implanted in differentiated cells, for example of skin, they become pluripotent stem cells. The iPS supply a vast amount of plasticity just as embryonic stem cells do, however, without requiring the extermination or cloning of human embryos, since the initial cells can be obtained from the same patient. In this aspect, these cells have the same status as adult stem cells do, with the advantage of their versatility.

The dilema that has been stirred by the iPS is being resolved due to recent studies carried out by Leisuke Kaji (Universidad de Edimburgo) and Andreas Nagy (Samuel Lunenfeld Research Institute of Mount Sinai Hospital of Toronto).

The created iPS perennially retain their pluripotentiality. There is still the need of research to be conducted concerning the control of the difference between these cells in order for them to create the tissue that is necessary for each case. As Kaji affirms in The Guardian, it is a step towards the practical use of reprogrammed cells in the field of medicine, which could eventually lead to eliminating the need of counting on human embryos as the main source of stem cells.

The Episcopal Subcommittee for the Family and Defense of Life of the Episcopal Conference, beliefs that no Catholic could support practices such as abortion, euthanasia or the production, freezing and/or manipulation of human embryos.

Clement Ferrer

Independent Forum of Opinion

http://indeforum.wordpress.com/

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Hurray for Gurdon and Yamanaka, Nobel Prize Winners for Pro-life Medicine - Gilmer Mirror

Recommendation and review posted by Bethany Smith

I set a high bar for writing about mouse studies. I dont include them in my textbooks or news articles, and only rarely blog about them. But when experiments in mice shine a glimmer of hope on a horrific illness with a long history of failed treatments, I pay attention. That happened last week for a report on editing out of mice the human version of the mutant Htt gene that causes Huntington disease (HD), published in the Journal of Clinical Investigation.

HD affects about 30,000 people in the US, and more than 200,000 family members are at-risk, possibly having inherited the mutation. The disease arises from a repeat of the DNA triplet CAG beyond the 35 or fewer copies that most of us have, at the start of the gene that encodes the protein huntingtin. CAG specifies the amino acid glutamine, and the extra stretch of it clogs certain neurons in the striatum in the brain, affecting movement, cognition, and behavior.

Symptoms typically begin in adulthood, but 10 percent of cases are juvenile. Karli Mukka developed symptoms at age 5, and died within weeks of her father Karl, she just 14 years old, he 43, in 2010. Karlis huntingtin gene did a loop-de-loop upon itself, giving her 99 CAG repeats to her fathers 47. DNA Science told her story here.

ONLY ONE TREATMENT, FOR ONE SYMPTOM

An expanding triplet repeat presents a thorny drug-targeting challenge. Countering it isnt as simple as supplying a missing enzyme, depleting a biochemical buildup, unfolding and refolding an errant protein, or even introducing a functional gene with gene therapy.

Unlike other genes in which mutations remove a normal function, abnormal huntingtin protein confers a toxic gain of function. Having two mutations is no worse than having just one, which means that lacking the normal (wild type) allele has no effect, at least after birth thats important.

The only FDA-approved treatment for HD is tetrabenazine, a repurposed schizophrenia drug used in other nations for decades before its FDA approval to treat the movement (chorea) part of HD in 2008. An altered version (deutetrabenazine) became available in April 2017: heavy hydrogen atoms (deuterium) keep the drug circulating longer.

Researchers have for years thrownevery tool imaginableat the formidable expanded Htt gene:

Deploying small molecules to target RNA loops or metabolites. Manipulating growth factor levels. Implanting stem cells to replace neurons. Dampening expression of the mutant gene using RNAi or antisense nucleic acids.

New biomarkers, prediction studies, scans, and induced pluripotent stem cells track the onset of the disease, with the hope of eventual early intervention.

I was once a fly-on-the-wall at private meetings of HD researchers, writing reports for a funding organization. I learned a great deal about the mouse models, the treatment modalities, and ways of detecting the disease early and tracking its progression. Progress was slow. That gig ended in 2010 before the debut of CRISPR/Cas9 gene editing. And now its beginning to sound like a whole different ballgame.

CRISPR EDITING OUT MUTANT HTT

The peculiarities of HD make gene editing, which can add, replace, or remove a gene, the most logical therapeutic strategy. HD requires DNA to be jettisoned, not augmented.

While RNAi and antisense oligonucleotides can dampen expression of the extended gene, the effect isnt permanent in the way that snipping out the repeat or even the entire gene would be. And a one-time or few-times editing out is preferable to a regular need for treatment, especially given the unsettling healthcare situationin the US.

Xiao-Jiang Li, MD, PhD, distinguished professor of human genetics at the Emory University School of Medicine, with colleagues there and at the Chinese Academy of Sciences, used CRISPR/Cas9 gene editing on mice that have the first exon (protein-encoding part) from the human Htt gene, including 140 CAG repeats its called an HD140Q knockin (Q stands for polyglutamine). Specks of the toxic protein appear when the mice are 4 to 6 months old, aggregating by 9-10 months. The timetable is like that in people, because mice live about 2 years.

Technical details (jargon alert): CRISPR/Cas9 was delivered to the striata of two dozen 9-month-old mice in two batches of adeno-associated viruses: guide RNAs targeting exon 1 and the Cas9 enzyme that cleaves both DNA strands, removing the gene and triggering repair of the breaks. The guide RNA part included instructions for red fluorescent protein, and both batcheswere under different promoter (control) sequences, so that the researchers could compare delivery of the dual intervention to either alone. Both are required: find the target and cut it out.

For 3 months the mice were tested on the rotarod, the balance beam, and a device to assess grip strength. Although the sample was small, the findings were clear and compelling.

In the brain parts given both components of the treatment, levels of toxic protein fell, in lockstep with improving performance on the rotating rods, balance beams, and grippers. Weight loss slowed and astrocytes (another type of brain cell) became less reactive. The red marker glowed from the right places the medium spiny neurons of the striatum while protein markers for other neurological diseases as well as for cell death (apoptosis) and degrading used parts (autophagy) werent altered. The experiment was elegantly controlled.

Because the mice had two Htt mutations unlike patients who typically have one and removing both copies didnt do harm, yanking both copies of the gene in people might work. That might mean a one-size-fits-all approach is feasible, rather than tweaking treatment to a specific repeat number. Normal Htt might be required in stem cells, though.

A major concern about CRISPR/Cas9 gene editing is off-target effects. This is relevant to tackling HD because expanded CAG repeats lie behind 7 other neurodegenerative diseases. What would ripping away the CAGs in these genes do? So far, the gene editing was restricted to Htt the researchers sequenced the genomes of the mice to check.

Perhaps most importantly, the treated mice were middle-aged! So older neurons can still throw out their garbage if appropriately stimulated. That may mean, someday, that HD patients flinging themselves helplessly on the floor or bashing their heads might find relief from a possibly one-time treatment that trims the repeats.

THE BIG PICTURE

Of course its a long journey from rodents to patients. But when the only options for families with HD are tetrabenazine to dampen movements and embryo selection to avoid transmitting the mutation, a potential treatment for those in the throes of the illness is good news indeed.

The enormous potential of gene editing to treat intractable diseases is why the anti-CRISPR backlash troubles me. I fear that negative depictions and predictions about the technology could obstruct the quest to develop one-time treatments for genetic diseases with concernsthat a lunatic will someday gene-edit an enhanced master race.

I wonder how many of the more than 6.5 million people who have clicked like toGenetic Engineering Will Change Everything Forever CRISPRhave read the media reports on the Journal of Clinical Investigation article? People love to exaggerate and panic, to imagine the worst, especially when the details of a new technology are unfamiliar or require a base of scientific knowledge.

Once again, politics cant be ignored. Gene editing could help to counter the deadly combination of cutting funding of basic biomedical research while threatening to take away healthcare for millions, simultaneously dismantling the pipeline for new treatments while dooming patients. Meanwhile, the mouse experiments provide something priceless to the HD community: hope. Sums up Jane Mervar, who lost her daughter Karli to juvenile HD and is now caring for two other daughters, CRISPR is my dream.

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Can CRISPR Conquer Huntington's? - PLoS Blogs (blog)

Recommendation and review posted by Bethany Smith

about 18 hours ago Updated: about 5 hours ago

Sudan, slow, unhappy and torpid as he pads glumly around the Ol Pejeta Conservancy in Kenya, his retirement home

The love life of Sudan, the last male northern white rhinoceros in the world, is understandably complicated. Currently, it is as slow, unhappy and torpid as he is, padding glumly around the Ol Pejeta Conservancy in Kenya, his retirement home.

In Sudan: The Last of the Rhinos (Wednesday, BBC Two, 9pm), he makes for an unlikely celebrity, but extinction can do a lot to raise your profile.

Recently, in an occurrence this nature documentary finds too trivial to mention, Sudan joined Tinder. For a creature with no opposable thumbs, this really seemed like a last throw of the dice for the species. Otherwise, mention of his predicament trends under the hashtag: #lastmalestanding.

Both social media campaign are gloomily ironic, because although there are two remaining females, there is no procreational hope for the once-plentiful African species. It is already extinct. Humans did this, says the biologist Thomas Hildebrant, and humans should correct it.

Directed by Rowan Deacon and prepared to travel the world for its detail, the documentary is unsure whether to proceed with a light step or a heavy heart. It proceeds with biographical cinereel, before building up a dual picture of threat: poachers in an unstable continent on one side, peddling its horn as an aphrodisiac, and safari park rustlers on the other. Sudan was captured by the latter and brought, of all places, to the former Czechoslovakia in 1974.

Repairing to present-day Dvur Kralove, where Josef Vgners zoo once held seven white rhinos, family and staff recall the animals passivity in captivity. I guess they had no choice, says one keeper. If anything, though, Sudan himself had grown violently disturbed; refusing to mate, attacking the females and killing one of his keepers. Once again, though, its the humans who take the blame.

Even before we follow the international efforts to revive the species by flying Sudan to Garamba Make love and multiply, instructs a Czech politician, with an ill-fitting levity that informs much of the programme. You are not tourists. the programmes focus shifts to human efforts. Cryonics, gamete harvesting, surrogate species and artificial insemination will play a more significant role in re-starting the northern white rhino than Sudan will.

Its morally incumbent on us to try to make this happen, says Hildebrandt. The programme wishes it had better news on that front a breakthrough is hoped for this year but so far nothing. It ends then, not as a lament for a celebrity rhino and his species, but as a study in human endeavours, whether perverse and ruinous, or shame-faced and progressive.

The northern white rhino is extinct, it knows, but were the ones who are threatened.

Original post:
A last-ditch attempt to stave off extinction as Sudan goes on Tinder - Irish Times

Recommendation and review posted by Bethany Smith

Chart of the day: Which age groups are coming to Invercargill? Stuff.co.nz There seems to be an influx aged 65 upwards. Just checked other cities in NZ and they are losing people in these age brackets. So what do the aged and wiser population know that the rest of us don't ?? Invercargill is closer too cryonics than the rest ...

See the original post:
Chart of the day: Which age groups are coming to Invercargill? - Stuff.co.nz

Recommendation and review posted by Bethany Smith

Author's note: The following consists of excerpts from my 45-page May 30 report on bluebird bio (NASDAQ:BLUE), Kite Pharma (NASDAQ:KITE), and Juno Therapeutics (NASDAQ:JUNO). The focus in this submission is BLUE. Please check out my Seeking Alpha profile for important information. Global Gene Therapy Market

The gene therapy market is gaining popularity in the global medical community. The advent of advanced techniques for gene transfer has enabled the use of gene therapy for various new applications. Although it is still at an infant stage, its promise has led to a range of bullish estimates. Market research firm BCC Research forecasts the global market for DNA vaccines to grow at a 54.8% CAGR to $2.7 bln by 2019, while two other observers -- Roots Analysis and Research and Markets -- predict the gene therapy market as a whole to reach ~$11 bln by 2025. Another report from market intelligence firm Transparency Market Research forecasts that the global stem cell market will grow at a CAGR of > 20% in the next few years and said there is a rich pipeline of more than 500 cell and gene therapy products, which will drive significant capacity as the pipeline matures and progresses to commercial supply.

Key factors driving market growth include demand for novel and efficient therapies to treat cancers and other indications with high unmet needs. Other market drivers include completion of the human genome project, rising incidence and prevalence of cancers and other critical diseases, and the prospective launch of gene therapies in major global markets.

Most gene therapy products are in the pre-clinical or clinical research stage. To-date, there are only five marketed drugs, namely Glybera, Neovasculogen, Gendicine, Rexin-G, and Oncorine. However, these products constitute very little revenue for the gene therapy market. Most revenue for the gene therapy market is generated from products used in clinical trials.

Need for gene therapy: It is estimated that, approximately 5% of the global population suffers from a rare disease and half of the global population affected by rare diseases are children, making rare disease treatment a concern for children across the globe. There are about 7,000 known rare diseases that comprise the most complex healthcare challenges for researchers and health professionals -- with most being difficult to diagnose due heterogeneity in disease epidemiology.

Rare diseases that affect 200,000 people in the US (as per the FDA definition) and a similar percentage in Europe are typically genetic in nature, and thus present a significant unmet need for potential regimes in the market.

As per World Health Organization, 80% of rare diseases are caused due to genetic abnormality and are inherited for generations. Approximately 5% of the rare diseases have a treatment and most of the current therapeutic approaches include gene therapy and cell therapy. A significant gap between demand and supply of rare disease drugs is expected to create a massive opportunity for manufacturers and researchers in the area of rare disease treatment.

How Does Gene Therapy Work?

Advances in biotechnology have brought gene therapy to the forefront of medical research. The prelude to successful gene therapy, the efficient transfer and expression of a variety of human gene into target cells, has already been accomplished in several systems.

Gene therapy may be defined as the introduction of genetic material into defective cells for a therapeutic purpose. While gene therapy holds great potential as an effective means for selective targeting and treatment of disease, the field has seen relatively slow progress in the development of effective clinical protocols. Although identifying genetic factors that cause a physiological defect is straightforward, successful targeted correction techniques are proving continually elusive. Hence, safe methods have been devised to do this (using several viral and no-viral vectors). Two main approaches have emerged in-vivo modification and ex-vivo modification. Retrovirus, adenovirus, adeno-associated virus are suitable for gene therapeutic approaches; these are based on permanent expression of the therapeutic gene. Non-viral vectors are far less efficient than viral vectors, but they have advantages due to their low immunogenicity and large capacity for therapeutic DNA.

Viral Vectors: These are virus-based vectors. Examples include retrovirus vector, adeno virus vector system, adeno associated virus vector, and herpes simplex virus. Extensive research is being conducted on the various viral vectors used in gene delivery. Non-viral Vectors: Examples of non-viral vector systems include pure DNA constructs, lipoplexes, DNA molecular conjugates, and human artificial chromosomes. Owing to the following advantages, non-viral vectors have gained significant importance in the past few years as they are less immune-toxic; there is risk-free repeat administration; and relative ease of large-scale production.

A major disadvantage is that the corrected gene needs to be unloaded into the target cell, and the vector has to be made to reach the required treatment site.

Gene therapy has transitioned from the conceptual, technology-driven, laboratory research, to clinical trial stages for a wide variety of diseases. In addition to curing genetic disorders such as Hemophilia, Chronic Granulomatous Disorder, and Severe Combined Immune Deficiency (ADA-SCID), it is also being tested to cure acquired diseases such as cancer, neurodegenerative diseases, influenza, and hepatitis.

Gene therapy is not limited to any particular disease. It is proving to be a promising treatment for rare diseases such as X-linked adrenoleukodystrophy. The therapy has proved effective in research conducted for the following diseases:

Fat Metabolism Disorder: Gene therapy is used to correct rare genetic diseases caused due to lipoprotein lipase deficiency. This deficiency leads to fat molecules clogging the blood stream. An adeno-associated virus vector is used to deliver the corrected copy of the LPL to the muscle cells. This corrected copy prevents excess accumulation of fat in the blood by breaking down the fat molecules. In 2012, the EU approved Glybera, the first viral gene therapy treatment for LPLD, manufactured by UniQure. Glybera is likely to be approved for the American market by 2018.

Adenosine Deaminase Deficiency: Gene therapy has successfully been used to treat another inherited immune disorder -- ADA deficiency. More importantly, none of the patients undergoing this treatment developed any other disorder. The retroviral vector is used in multiple small trials to deliver the functional copy of the ADA gene. Primarily, all the patients involved in these trials did not require any injection of ADA enzyme as their immune functions had immensely improved.

Severe Combined Immune Deficiency: A lot of documented work is already available regarding treating this immunodeficiency with gene therapy; however, clinical trials have not shown promising results. The viral vectors used during the trials triggered leukemia in patients. Since then, focus of the research and trials has been on preparing new vectors that are safe and do not cause cancer.

Hemophilia: Patients with hemophilia suffer excessive blood loss as the blood clotting protein (Factor IX) is absent. Researchers have successfully inserted the missing gene in the liver cells using an adeno-associated viral vector. After undergoing this treatment, patients experienced less bleeding as their body was able to create some of the Factor IX protein.

Cystic Fibrosis (CF): CF is a chronic lung disease caused due to a faulty CFTR gene. Genes are injected into cells using a virus. Recent studies also include testing the cationic liposome (a fatty container) to deliver DNA to the faulty CFTR gene, thus making the use of the non-viral gene carrier more successful. Phase II trials using this therapy were published in early 2015, which promised a novel therapeutic approach to CF.

-thalassemia: Clinical trials on gene therapy for -thalassemia (the faulty beta-globin gene, which codes for an oxygen-carrying protein in (RBC) can be tracked back to 2007. Blood stem cells were taken from the patients bone marrow and a retrovirus was used to transfer a working copy of the faulty gene. The modified stem cells were re-injected into the body to supply functional red blood cells. This treatment, once conducted, lasted over seven years, with the patient not undergoing blood transfusion during this time.

Hereditary Blindness: Currently, gene therapy is being tested to treat degenerative form of inherited blindness, where patients lose light-sensing cells in their eyes over time. Experimental data suggests that the animal models of a mouse, rat, and dog show slow or even reverse vision loss using gene therapy. The most important advantage associated with gene therapy for eye disorders is that AAV (adeno-associated virus) cannot shift from the eye to other body parts, and hence does not cause an immune reaction.

Parkinson's Disease: Patients with Parkinson's disease lose the ability to control their movement as their brain cells stop producing the dopamine molecule used for signaling. A small group of patients showed improved muscle control when a small area of their brain was treated with a retroviral vector that contained dopamine-producing genes.

This is because cancer genetics is a novel treatment method, marked by high R&D costs. The therapy targets diseases with high unmet needs; this has been the driving force behind academic research laboratories, small biotech firms, and large pharmaceutical companies. The therapy is of short-duration treatment or mostly one-time treatment customized to individuals, and often in small patient populations.

bluebird bio (BLUE) is a clinical-stage biotechnology company that focuses on developing transformative gene therapies for severe genetic diseases and cancer. Its product candidates include Lenti-D, which is in phase II/III clinical studies for the treatment of cerebral adrenoleukodystrophy -- a rare hereditary neurological disorder -- and LentiGlobin, which is in four clinical studies for the treatment of transfusion-dependent beta-thalassemia and severe sickle cell disease. The companys lead product candidate is bb2121, a chimeric antigen receptor (CAR) T cell receptor (TCR) product candidate that is in phase I trial for the treatment of relapsed/refractory multiple myeloma.

The company's gene therapy platform is based on viral vectors that utilize a non-replicating version of the Human Immunodeficiency Virus Type 1 (HIV-1). Its lentiviral vectors are used to introduce a functional copy of a gene to the patient's own isolated hematopoietic stem cells (HSCs) in the case of its LentiGlobin and Lenti-D product candidates, or the patient's own isolated white blood cells, which include T cells, in the case of its bb2121 product candidate.

BLUE has a strategic collaboration with Celgene Corporation (CELG) to discover, develop, and commercialize disease-altering gene therapies in oncology; with Kite Pharma (KITE) to develop and commercialize second generation T cell receptor product candidates against an antigen related to certain cancers associated with the human papilloma virus; and with Medigene (Germany) for the research and development of (TCR) product candidates directed against approximately four antigens for the treatment of cancer indications. Founded in 1992 and headquartered in Cambridge, Massachusetts, the company was formerly known as Genetix Pharmaceuticals and later changed its name to bluebird bio (Incorporated) in September 2010.

With its lentiviral-based gene therapies, T-cell immunotherapy expertise, and gene-editing capabilities, BLUE has built an integrated product platform with broad potential application for severe genetic diseases and cancer. BLUE's approach to gene therapy is based on viral vectors that utilize the Human Immunodeficiency Virus Type 1 or HIV-1. The HIV-1 vector is stripped of all the components that allow it to self-replicate and infect additional cells. HIV-1 is part of the lentivirus family of viruses. The vectors are used to introduce a modified copy of a gene from the patients own blood stem cells called hematopoietic stem cells (HSC), which reside in the patient's bone marrow. HSCs divide cells that allow for sustained expression of the modified gene.

Lenti-D

bluebird is developing the Lenti-D product candidate to treat patients with cerebral adrenoleukodystrophy.

Adrenoleukodystrophy is a rare X-linked, metabolic disorder caused by mutations in the ABCD1 gene, which results in a deficiency in adrenoleukodystrophy protein, or ALDP, and subsequent accumulation of very long-chain fatty acids. Symptoms of CALD usually occur in early childhood and progress rapidly if untreated, leading to severe loss of neurological function and eventual death.

Completed non-interventional retrospective study (the ALD-101 Study)

CALD is a rare disease, and data on the natural history of the disease, as well as the efficacy and safety profile of allogeneic HSCT, is limited in scientific literature. To properly design clinical studies of Lenti-D and interpret the efficacy and safety results thereof, at the recommendation of the FDA, bluebird performed a non-interventional retrospective data collection study to assess the natural course of the disease in CALD patients that were left untreated in comparison with the efficacy and safety data obtained from patients that received allogeneic HSCT.

For this study, data was collected from four US sites and one French site on a total of 137 subjects, 72 of whom were untreated and 65 were treated with allogeneic HSCT.

Starbeam Study (ALD-102) Phase II/III clinical study in subjects with CALD

The company is currently conducting a phase II/III clinical study of Lenti-D product candidate in the US, referred to as the Starbeam Study (ALD-102), to examine the safety and efficacy of Lenti-D product candidate in subjects with CALD. The study was fully enrolled in May 2015; however, in December 2016, the company amended the protocol for this study to enroll up to an additional eight subjects in an effort to enable the first manufacture of Lenti-D product candidate in Europe and the subsequent treatment of subjects in Europe, and to bolster the overall clinical data package for potential future regulatory filings in the US and Europe. It intended to begin treating the additional patients in early 2017.

The ALD-103 (observational) study

bluebird is also conducting the ALD-103 study, an observational study of subjects with CALD treated by allogeneic HSCT. This study is ongoing and is designed to collect efficacy and safety outcomes data in subjects who have undergone allogeneic HSCT over a period that is contemporary with the Starbeam study.

Lentiglobin Product

Transfusion-dependent -thalassemia (TDT)

-thalassemia is a rare hereditary blood disorder caused by a mutation in the -globin gene, resulting in the production of defective red blood cells, or RBCs. Genetic mutations cause the absence or reduced production of beta chains of hemoglobin, or -globin, preventing the proper formation of hemoglobin A, which normally accounts for more than 95% of the hemoglobin in the blood of adults.

Limitations of current treatment options

In geographies where treatment is available, patients with TDT receive chronic blood transfusion regimens. These regimens consist of regular infusions with units of packed RBC, or pRBC, usually every three to five weeks, to maintain hemoglobin levels and control symptoms of the disease.

The only potentially curative therapy for -thalassemia today is allogeneic HSCT. However, complications of allogeneic HSCT include risk of engraftment failure in unrelated human-leukocyte-antigen, or HLA, matched patients, risk of life-threatening infection, and risk of GVHD -- a common complication in which donor immune cells (white blood cells in the graft) recognize the cells of the recipient (the host) as foreign and attack them. As a result of these challenges, allogeneic HSCT can lead to significantly high mortality rates, particularly in patients treated with cells from a donor who is not a matched sibling, and in older patients. Overall, TDT remains a devastating disease, with an unmet medical need.

The Northstar Study (HGB-204) Phase I/II clinical study in subjects with TDT

The Northstar study is a single-dose, open-label, non-randomized, multi-site phase I/II clinical study in the US, Australia, and Thailand to evaluate the safety and efficacy of the LentiGlobin product candidate in increasing hemoglobin production and eliminating or reducing transfusion dependence following treatment. In March 2014, the first subject with TDT was treated in this study, and, in May 2016, the study was fully enrolled.

The study enrolled 18 adults and adolescents. To be eligible for enrollment, subjects had to be between 12 and 35 years of age, with a diagnosis of TDT, and received at least 100 mL/kg/year of pRBCs or more than or equal to eight transfusions of pRBCs per year in each of the two years preceding enrollment.

Efficacy will be evaluated primarily by the production of 2.0 g/dL of hemoglobin A containing A-T87Q-globin for the six-month period between 18 and 24 months, post transplants. Exploratory efficacy endpoints include RBC transfusion requirements (measured in milliliters per kilogram) per month and per year, post transplants.

The HGB-205 study Phase I/II clinical study in subjects with TDT or with severe SCD

bluebird is conducting the HGB-205 study, a phase I/II clinical study, in France to study the safety and efficacy of its LentiGlobin product candidate in the treatment of subjects with TDT and of subjects with severe SCD. In December 2013, the company said that the first subject with TDT had been treated in this study; in October 2014, bluebird declared that the first subject with severe SCD had been treated in this study. By February 2017, the study had been fully enrolled.

bluebird is conducting HGB-206 multi-site phase I clinical study in the US to evaluate the safety and efficacy of its LentiGlobin product candidate for the treatment of subjects with severe SCD. In October 2016, the company amended the protocol of its HGB-206 study to expand enrollment and incorporate several process changes, including updated drug product manufacturing process. Enrollment had begun under this amended protocol, and, in February 2017, the company treated the first subject under this amended protocol.

The Northstar-2 Study (HGB-207) Phase III study in subjects with TDT and a non-0/ 0 genotype

The Northstar-2 study is an ongoing single-dose, open-label, non-randomized, international, multi-site phase III clinical study to evaluate the safety and efficacy of the LentiGlobin product candidate to treat subjects with TDT and non-0/0 genotype. Approximately 23 subjects will be enrolled in the study, consisting of at least 15 adolescent and adult subjects between 12 and 50 years of age at enrollment, and at least 8 pediatric subjects less than 12 years of age at enrollment. In December 2016, the first subject had received treatment with the LentiGlobin product candidate.

The planned Northstar-3 Study (HGB-212) Phase III Study for TDT in subjects with TDT and a 0/ 0 genotype

The company plans the initiation of HGB-212, a phase III clinical study of LentiGlobin in patients with TDT and the 0/0 genotype in 2H FY2017.

bluebird expects to enroll up to 15 adult, adolescent, and pediatric subjects. The company anticipates that the primary endpoint of the Northstar-3 study will be transfusion reduction, which is defined as a demonstration of a reduction in the volume of pRBC transfusion requirements in the post-treatment time period of 12-24 months, compared with the average annual transfusion requirement in the 24 months prior to enrollment.

Sickle Cell Disease

SCD is an inherited disease that is caused by a mutation in the -globin gene; this results in sickle-shaped red blood cells. The disease is characterized by anemia, vaso-occlusive crisis, infections, stroke, overall poor quality of life, and, sometimes, early death. Where adequate medical care is available, common treatments for patients with SCD largely revolves around the management and prevention of acute sickling episodes. Chronic management may include hydroxyurea and, in certain cases, chronic transfusions. Given the limitations of these treatments, there is no effective long-term treatment. The only advanced therapy for SCD is allogeneic hematopoietic stem cell transplantation (HSCT). Complications of allogeneic HSCT include a significant risk of treatment-related mortality, graft failure, graft-versus-host disease, and opportunistic infections -- particularly in patients who undergo non-sibling-matched allogeneic HSCT.

In March 2017, bluebird announced the Publication of the Case Study on the First Patient with Severe Sickle Cell Disease Treated with Gene Therapy in The New England Journal of Medicine. Patient 1204, a male patient with S/S genotype, was enrolled in May 2014 at 13 years of age into the HGB-205 clinical study. The patient underwent a regular transfusion regimen for four years prior to this study. Over 15 months since transplant, no SCD-related clinical events or hospitalizations occurred -- contrasting favorably with the period before the patient began regular transfusions. All medications were discontinued, including pain medication.

The successful outcome in Patient 1204 demonstrates the promise of treatment with LentiGlobin gene therapy in patients with severe SCD and serves as a guide to optimize outcomes in future patients.

Celgene Collaboration

In March 2013, BLUE entered into a strategic collaboration with Celgene to advance gene therapy in oncology (cancer), which was amended and restated in June 2015, and amended again in February 2016. The multi-year research and development collaboration focused on applying BLUEs expertise in gene therapy technology to CAR T cell-based therapies, to target and destroy cancer cells. The collaboration now focuses exclusively on anti- B-cell maturation antigen BCMA product candidates for a new three-year term.

Under the terms of the Amended Collaboration Agreement, for up to two product candidates selected for development under the collaboration, BLUE is responsible for conducting and funding all research and development activities performed up through completion of the initial phase I clinical study of such a product candidate.

In February 2016, Celgene exercised its option to obtain an exclusive worldwide license to develop and commercialize bb2121, the first product candidate under the Amended Collaboration Agreement, and paid the associated ($10 million) option fee. BLUE will share equally in all costs related to developing, commercializing, and manufacturing the product candidate within the US, if it elects to co-develop and co-promote bb2121 with Celgene. In case BLUE does not exercise its option to co-develop and co-promote bb2121, it will receive an additional fee (of $10 million).

Summary

All three names in my May 30, 2017 (45-page) report are from the same space and I highly recommend taking a look at the entire report before making an investment decision. It is available on request.

This industry is in its infancy -- most trials are only in Phase I or Phase II. The companies do not have earnings yet and that makes them difficult to value today. In my opinion, the upside here is significant, but you may have to hold on to these names for a few years in order to realize that upside, because today an argument can be made that the stocks have gotten a little bit ahead of themselves.

I am keeping my Buy recommendation on Juno (unchanged) and I am keeping my Hold recommendation on Kite (unchanged). There are currently seven institutions (each) with stakes of at least 250 million dollars in BLUE. There are nine institutions (each) with stakes of at least 175 million dollars in KITE. With JUNO the institutional ownership is much lower -- many institutions probably got shaken out following deaths on the Juno trials last year. In my opinion the market over-reacted to those deaths. In fact, the shares have already bounced significantly since the low from last year following that market over-reaction (and insiders bought $500,000 worth of Juno shares recently).

I went in-and-out of KITE twice in the last couple of years and locked in gains of 35% both times. I most recently exited KITE at $87 a share on March 13.

The 52-week high on BLUE is $124 and the all-time high is $194.

There are 8,000,000 shares short and that is more than 10X the average daily volume.

My recommendation is to allocate 3% portfolio weight to this industry: 1.5% to BLUE, 0.75% to KITE, and 0.75% to JUNO.

I remember an analyst (many years ago) on CNBC defending his Sell recommendation on Amazon. It was trading at $100/share at the time. He defended the Sell rating by saying they lose money on every book they sell. AMZN recently hit $1,000 today. The lesson here is do not be afraid to invest in names with multi-billion market caps that are without EPS today. With KITE, BLUE and JUNO you must look out 3-5 years.

Sources

Why bluebird bio Stock Surged 20.7% Higher in January

Risks - Mayo Clinic

bluebird bio Reports First Quarter 2017 Financial Results and Recent Operational Progress

bluebird bio Announces Publication of Case Study on First Patient with Severe Sickle Cell Disease Treated with Gene Therapy in The New England Journal of Medicine

Annual Report 10K

Quarterly Report 10Q

Press Release | Investor Relations | Bluebird Bio

Kite Pharma (KITE) Posts Q1 Loss, Reveals CAR-T Patient Death

SHAREHOLDER ALERT: Bronstein, Gewirtz & Grossman, LLC Announces Investigation of Kite Pharma, Inc. (KITE)

KITE INVESTOR ALERT: Faruqi & Faruqi, LLP Encourages Investors Who Suffered Losses Exceeding $100,000 Investing In Kite Pharma, Inc. To Contact The Firm

SHAREHOLDER ALERT: Levi & Korsinsky, LLP Announces the Commencement of an Investigation Involving Possible Securities Fraud Violations by the Board of Directors of Kite Pharma, Inc.

Kite Investors See An Uncomfortable Parallel With Juno

Kite Pharma: History In The Making?

Kite Pharma: Still Time To Get In Ahead Of Lead Oncology Treatment Approval

Here's What's Dragging Kite Pharma Inc. Down Today -- The Motley Fool

Global Gene Therapy Market to Reach US$316 Million by 2015, According to a New Report by Global Industry Analysts, Inc.

Gene Therapy Market information, Current Trends Analysis, Major Players and Forecast 2024

Gene Therapies Market will generate $204m in 2020

Cancer Gene Therapy Market size to exceed $4.3bn by 2024

Could gene therapy become biotech's growth driver in 2017?

Cell Therapy 2016 - Year in Review (part 1)

Cancer Gene Therapy Market Size, Share, Industry Report 2024

Gene Therapy Market information, Current Trends Analysis, Major Players and Forecast 2024

Gene Therapy Clinical Trials Worldwide

http://www.bath.ac.uk/bio-sci/hejmadi/gene%20therapy%20rev%20els.pdf

Aranca Report - GENE THERAPY: Advanced Treatments for a New Era

International Journal Of Pharma Sciences and Research (IJPSR) - Gene therapy: Current status and future perspectives Gene Therapy Institute for Clinical and Economic Review

See the article here:
Biotech Gene Therapy names Juno, Kite, and Bluebird Bio still have room to run - Seeking Alpha

Recommendation and review posted by sam

LogicBio Therapeutics has got off a $45 million series B funding round as it eyes the cash for disease-modifying gene therapies in rare childhood diseases.

London-based investment firm Arix Bioscience led the oversubscribed round in the semi-stealth biotech, with new investors OrbiMed, Edmond De Rothschild Investment Partners, Pontifax, and SBI, along with previous investors OrbiMed Israel Partners, also stumping up cash.

Arix Bioscience's investment manager, Daniel OConnell, M.D., Ph.D, will join Cambridge, Massachusetts-based LogicBios board as part of the raise. This brings its total raised to $50 million, much of which will be put toward finishing off preclinical work and moving them into human tests.

The biotech sets itself up as a breakthrough gene therapy company targeting lifelong cures for serious, early-onset rare diseases by combining the best of gene therapy and gene editing in a one-time treatment.

It was founded in 2014 with platform technologies discovered by Adi Barzel, Tel Aviv University, Dr Leszek Lisowski, Childrens Medical Research Institute, Australia, and Professor Mark Kay at Stanford University School of Medicine.

The first platform, GeneRide, is a technology that uses homologous recombination that is designed to allow site-specific transfer of therapeutic genetic material without the use of promoters or nucleases. The company says it also has access to a library of synthetic, non-pathogenic, recombinant adeno-associated viral (rAAV) vectors developed at Stanford that allows for better predictability of vector performance in clinical trials.

Joe Anderson, CEO of Arix Bioscience, said: Early intervention for rare genetic disorders in children is important and LogicBio is uniquely positioned at the forefront of this research area with its proprietary genetic therapy technology to deliver a durable cure for young patients with life-threatening genetic diseases and otherwise limited options. LogicBio has huge potential and, alongside its excellent team and investors, we look forward to supporting the company to achieve continued success in this area.

Go here to read the rest:
Arix leads $45M series B for gene therapy biotech LogicBio - FierceBiotech

Recommendation and review posted by sam

Shortly before Talia Duff of Ipswich, Massachusetts, turned 9, her mother noticed that she was losing mobility. Talia, who has Down syndrome, could no longer use a spoon or give a hug and her arms and legs had become increasingly weak.

Jocelyn Duff, a physicians assistant, and her husband, John Duff, dean at a community college, took their daughter to the hospital for testing and received devastating news in September 2015: Talia had a rare genetic disease called Charcot-Marie-Tooth Neuropathy Type 4J a disorder estimated to be shared by only 22 people worldwide. The disease causes profound muscle weakness and eventually affects the capability to breathe.

It was heartbreaking we were told there was no hope, no treatment, no cure, Jocelyn, 50, tells PEOPLE. There wasnt much research available about it, and that kept me awake at night. I wanted to do as much as I could.

Adds John, Its a horrible feeling to go to a doctor and be told that theres nothing that can be done that the best you can do is try and make your child comfortable and enjoy the time you have together. I learned to cherish moments in life that I would otherwise take for granted.

The Duffs soon realized that to save Talias life, they would have to take the search for a cure into their own hands. They created the Cure CMT4J Foundationto raise money for research, and Jocelyn gleaned through every story she could find on the Internet in search of researchers and scientists who knew something about the disease.

When Dr. Jun Li, director of the CBT clinic at Vanderbilt University, told her that gene therapy might help Talia, Jocelyn took her quest one step further: Last September, she asked all of the experts she had found in an online search if they would meet her in Bethesda, Maryland, to discuss working on a cure for CMT4J. Eight researchers showed up, each agreeing to work together to find a way to help Talia Duff.

It was an incredible moment hands started going up and people were saying, Lets get to work, Jocelyn recalls. It was so heartwarming and comforting I felt like I was walking on clouds for days.

Since that meeting, the Duffs have received some uplifting news: The research team concluded that gene therapy would have positive and lasting effects for Talia, who is now 11. Once FDA approval has been granted to begin the first clinical trial (hopefully by summers end, says Jocelyn), the Ipswich fifth-grader will be able to receive gene therapy intravenously.

We feel hope now, Jocelyn tells PEOPLE. People have said to me, This is a lot of work for you, and my response is, Hey, you would do this for your child, too. I simply cant stand by and do nothing.

Community efforts to fund research for the cure have thus far brought in more than $235,000 on the Duffs website,with a goal of reaching $1 million by the end of the year.

Talia has faced such tough monumental challenges, and yet, she smiles through it all and has never complained, says Marcia Gray, a family friend who helped organize several Duff Enough fundraisers. Its important to everyone, especially Talias school friends, to do what they can.

Once an active girl who enjoyed dance classes and riding her bicycle, Talia is now too weak to walk or lift up her arms. But her family is hopeful that if gene therapy stops the diseases progress, her peripheral nerves will heal, allowing her to get back some of her strength.

The lessons we learn and the technology we develop through helping families like the Duffs will ultimately help us create best practices and treatment for a wide variety of diseases, says Cathleen Lutz, senior director of the Rare and Orphan Disease Center at the Jackson Laboratory.Every person with a genetic health condition deserves the chance to lead a healthy, happy life.

The Duffs, who have another daughter, Teaghan, 14, know that time is their enemy, but they remain hopeful that the voluntary hard work of Talias research team will soon add years to her life.

Im floored by how far weve come in a year, John tells PEOPLE. To think that a little over a year ago, we were flying around the country, looking for a sliver of hope, and now were working on a cure. We realize that this is science and there is still a lot that can happen, but to get this far in that short amount of time is breathtaking.

Adds Jocelyn, Were so overwhelmed with gratitude for everyone who has gotten us this far. And now Talia is giving other families hope. To every family out there in a similar fight, we want to say, Dont give up. Anything is possible.

Original post:
Massachusetts Mom Convinces Scientists to Find Potential Cure for Daughter's Rare Disease: 'Anything Is Possible' - PEOPLE.com

Recommendation and review posted by Bethany Smith

June 29, 2017 Credit: CC0 Public Domain

Although the basic outlines of human hearing have been known for years - sensory cells in the inner ear turn sound waves into the electrical signals that the brain understands as sound - the molecular details have remained elusive.

Now, new research from the University of Maryland School of Medicine (UM SOM), has identified a crucial protein in this translation process.

The findings were published today in the latest issue of Nature Communications. The study is the first to illuminate in detail how a particular protein, which is known as CIB2, allows hearing to work.

"We are very excited by these results," said the senior author of the study, Zubair Ahmed, professor in the Department of Otorhinolaryngology-Head and Neck Surgery at UM SOM. "This tells us something new about the fundamental biology of how hearing works on a molecular level."

CIB2, which is short for calcium and integrin-binding protein 2, is essential for the structure of stereocilia, the structures at the top of the sensory hair cells in the inner ear. Stereocilia are extremely small, less than a half a micrometer in diameter, which is about the wavelength of a visible light. Each ear contains 18,000 hair cells that do not divide or regenerate.

Dr. Ahmed and his colleague Saima Riazuddin, professor in the Department of Otorhinolaryngology-Head and Neck Surgery at UM SOM, along with their collaborators, discovered five years ago that CIB2 was involved in hearing. Since then, they have studied this protein in flies, mice, zebrafish and humans. The new study is the first to explain the mechanism behind CIB2 in hearing.

In this study, they genetically engineered mice without CIB2, as well as mice in which a human CIB2 gene mutation had been inserted. The researchers found that the human mutation affects the ability of the CIB2 protein to interact with two other proteins, TMC1 and TMC2, which are crucial in the process of converting sound to electrical signals. This process is known as mechanotransduction.

People with this mutation cannot turn soundwaves into signals that the brain can interpret, and so are deaf. When the researchers inserted the human CIB2 mutation into the mouse, they found that the mice were deaf.

"This is a big step in determining the identity of key components of the molecular machinery that converts sound waves into electrical signals in the inner ear," said the study's co-senior author, Gregory Frolenkov, of the Department of Physiology at the University of Kentucky.

Dr. Ahmed and his colleagues are now looking for other molecules beyond CIB2 that play a key role in the process. In addition, they are exploring potential therapies for CIB2-related hearing problems. In mice, they are using the gene editing tool CRISPR to modify dysfunctional CIB2 genes. They suspect that if this modification occurs in the first few weeks after birth, these mice, which are born deaf, will be able to hear. The scientists are also experimenting with gene therapy, using a harmless virus to deliver a normal copy of the normal CIB2 gene to baby mice that have the mutated version. Dr. Ahmed says the early results of these experiments are intriguing.

Nearly 40 million Americans suffer from some level of hearing loss. This includes around 74,000 children with profound, early-onset deafness. At least 50 percent of these deafness cases are due to genetic causes.

It is not clear how common CIB2 mutations are in the US population, or how large a role these mutations play in deafness in humans worldwide. In his research on a group of families in Pakistan that have a higher risk of deafness, Dr. Ahmed has found that about 8 to 9 percent seem to have mutations in CIB2. Overall, he says, the gene could play a role in tens of thousands of cases of deafness, and perhaps many more than that. He is also studying CIB2 among the general population. It may be that some versions of the gene also play a role in deafness caused by environmental conditions, creating a predisposition to hearing loss.

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New research identifies key mechanism behind some deafness - Medical Xpress

Recommendation and review posted by sam

Expedition 52 explored the aging process in space today and measured the lighting conditions on the International Space Station. The crew is also getting spacesuits ready for an upcoming Russian spacewalk.

Flight Engineer Peggy Whitson swapped out stem cell samples today inside the Microgravity Science Glovebox for the Cardiac Stem Cells study. The experiment is researching spaceflights effect on accelerated aging and may provide a treatment for heart disease on Earth. Scientists are observing the stem cells in space to determine their role in cardiac biology and effectiveness in tissue regeneration.

Whitson also set up light meters to measure the intensity and color of new LED (light-emitting diode) light bulbs installed in the station. The data is being collected for the Lighting Effects study to determine how the new lights affect crew sleep, circadian rhythms and cognitive performance.

NASA astronaut Jack Fischer checked out Russian Orlan spacesuits with Commander Fyodor Yurchikhin this morning. The spacesuit maintenance work is doing being done ahead of a Russian spacewalk planned for later this year.

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Aging and Heart Research Lead Station Science Today - Space Fellowship

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Jonathan Pitre is a teenager who loves to write science fiction as an escape from the painful disease that causes his body to be coated with wounds.

But the breakthrough bone-marrow transplant he just received at the University of Minnesota is anything but fantasy.

A decade after performing the worlds first bone marrow transplants to treat epidermolysis bullosa a rare and potentially fatal skin disease university researchers believe they have discovered a powerhouse new formula that advances their research, helps the body grow new skin and will allow patients such as Pitre, 17, to live longer, less painful lives.

Its really not miraculous. It certainly isnt science fiction, said Dr. Jakub Tolar, director of the Us stem cell institute and the world leader in transplant therapies for EB. Its based on the hard work of our predecessors. You accomplish something and then you use that knowledge to enhance the next step and the next step.

When they conducted the first transplants using donor bone marrow and umbilical cord blood in 2007, Tolar and colleagues were trying to produce a collagen that binds skin together and is lacking in EB patients. But they had little certainty about the types of cells that would work best.

Since then, research discoveries have allowed them to home in on mesenchymal stem cells, which they believe are uniquely good at bullying their way into the body and producing the missing collagen.

This is the first time ever, that I know of, when you are infusing them with the goal that these cells will stay, Tolar said. They will graft into the skin, set up shop there. Its as if these mesenchymal stem cells are coming home.

The doctors have also focused on transplants involving bone marrow from relatives, which is more familiar to the body and less likely to be rejected by the recipients.

A transplant like Jonathans occurs in a one-two punch. After receiving radiation and chemotherapy treatments to suppress the immune system, the patient receives an infusion of hematopoietic blood stem cells from a donor. Their job in this procedure is to give the patient a new immune system that wont reject the donors mesenchymal cells when they are transplanted later.

Since the U received federal approval last fall to offer the treatment experimentally, seven patients have undergone the procedure.

Tolar said all seven are progressing though Jonathan needed a second transplant this spring because the first one failed to knock out his old immune system.

Jonathan suffered an infection after his most recent transplant, which forced him to return to the hospital this month with high fevers and blisters on his face and mouth. Even so, Jonathans mother, Tina Boileau, said she has been taking pictures since the latest transplant to document the progress for her son, whose back is covered with wounds but for a healthy spot on his right shoulder blade.

Theyre actually in scabs, a sign of healing, said Boileau, who was the bone marrow donor for her sons transplant. Which Ive never seen before.

10 patients died

EB afflicts about one in every 30,000 to 50,000 people, though some forms are more severe than others. While it is known largely for the grotesque skin wounds it causes, the disease is often fatal because it leads to severe infections or skin cancers. It can also create internal wounds to the patients digestive tract, which impairs eating.

The desperation of children with the disorder and their families compelled the first transplants at the university in 2007. Even using the old approach, about two-thirds of patients saw improvements, but 10 of the first 30 recipients died from their diseases or complications of treatment.

The Us latest success with mesenchymal stem cells might end up being an incremental step. Earlier this year, Tolar and his colleagues published research showing success in an even more advanced therapy: laboratory testing using gene editing that can reprogram the patients cells to produce healthy skin cells and tissue.

Further successes could lead to clinical trials in which a patients own dysfunctional cells would be reprogrammed, preventing the need for chemotherapy and the replacement of their immune systems.

Before they came to the U, Boileau said, her son had run out of options. Managing his pain, once possible with over-the-counter Advil, had come to require opioid painkillers such as methadone. That made him groggy and complicated his already awkward life at school back home in Ottawa. Jonathan wasnt even able to eat lunch in the school cafeteria for fear of being accidentally bumped and suffering fresh wounds.

Then the Canadian government approved funding to make him his countrys first recipient of an experimental bone marrow transplant for EB. And his home community rallied to support the family. Among other things, he has visited with pro hockey players from the Ottawa Senators, which also issued a contract adding him to their scout staff.

After seeing the pain her son has endured, Boileau said shell never complain about a blister from new shoes. She marvels at his optimism and his use of science fiction reading and writing to escape.

Inspired by the success of Christopher Paolini, who wrote the acclaimed Eragon science fiction novel as a teen, Jonathan has resolved to write his own science fiction book about a teen who develops the ability to overcome EB. The project resulted in long visits and e-mail exchanges between Tolar and his patient about medicine and physics, because Jonathan wants his story grounded in reality.

Theyre almost soul mates, Boileau said.

Tolar said he enjoys the intellectual relationship and that his patient is providing an example of hope and teaching others about the disease: He may be the only person [who] can bring this kind of view to others, Tolar said.

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U team discovers 'powerhouse' new treatment in fight against deadly skin disease - Southernminn.com

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Today the Charlotte Lozier Institute announced the release of its latest testimonial video at StemCellResearchFacts.org, a project of the Washington, D.C.-based research and policy group. The video revisits Jackie Stollfus, a lupus survivor whose story was first told in a video released in 2014.

Diagnosed at the age of 21 with systemic lupus, an autoimmune disease with no known cure, Stollfus endured years of debilitating symptoms that did not respond to medication before undergoing a transplant of her own bone marrow stem cells. Seven years later, she is healthy, active, and has been able to start a family. Adult stem cells saved my life, gave me a chance to have a life, gave me that chance to be a mom, she says.

Dr. David Prentice, Vice President and Research Director of the Charlotte Lozier Institute and an international expert on stem cells, hailed the new video, saying:

Follow LifeNews.com on Instagram for pro-life pictures.

Autoimmune diseases are notoriously challenging to treat, which makes Jackie Stollfuss recovery that much more striking. As this video shows, adult stem cells are the gold standard for stem cells when it comes to patient-centered science. Jackies story is only the latest example of innovation using adult stem cells. These non-controversial cells have led to validated healing in FDA-approved studies and peer-reviewed publications for patients with various diseases and conditions. Derived from bone marrow, umbilical cord blood, and other ethical sources, they have already been used to help over one million suffering patients around the globe.

Charlotte Lozier Institute President Chuck Donovan praised Congressional efforts to prioritize NIH funding for the most promising research:

The initial successes for these innovative therapies must be followed up with expanded resources to bring more treatments to the clinic and the bedside. The bipartisan, aptly-named Patients First Act (H.R. 2918) introduced by Rep. Jim Banks and Rep. Dan Lipinski is a good example of how policymakers can advance cutting-edge medicine. It directs resources for stem cells where they will do the most good for patients.

StemCellResearchFacts.org, a project of the Charlotte Lozier Institute, was established in 2009 to facilitate and form a worldwide community dedicated to helping individuals, patients and families discover, learn and share the latest advances in adult stem cell research. To that end, the website has published 16 video testimonials backed by peer-reviewed published science. These testimonials feature patients who have undergone successful therapies for a variety of conditions including autoimmune diseases, cancer, spinal cord injury, heart disease, and more using adult stem cells. They also convey the testimony of doctors and researchers on the merits of these treatments.

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Adult Stem Cells Save Woman Ravaged by Lupus, Now She Can be ... - LifeNews.com

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In the future, when a couple wants to reproduce, they will not make a baby in a bed or in the backseat or a car, or under a Keep Off the Grass sign, says Henry Greely, the director of the Center for Law and the Biosciences at Stanford Law School.

Instead, they will go to a clinic. Using stem cells from the couples skin or other non-reproductive organs, scientists will be able to make eggs and sperm, which will be combined into embryos. Each of those embryos will have its own gene sequence, Greely says. The parents will be asked: What do you want to know about these embryos? And theyll be told.

Twenty or 30 years from now, parents will be able to screen their potential kids for genetic abnormalities, pre-disposal to disease, sex, and even cosmetic features like hair, eye, and skin color, Greely claims. The new way of baby-making will save women the pain of going through fertility treatments, he says, and it will prevent disease, save health-care costs, and give non-traditional families more chances to have children. If this reproductive future comes to pass, it will also come with a tangle of moral, legal, and medical questionsones that wont be easy to resolve, despite what Greely may think.

When Greely tells people about his theorywhich is the subject of his 2016 book, The End of Sex and the Future of Human Reproductionthey tend to say, This is Gattica, or this is Brave New World, he said during an interview with the New York Times reporter Carl Zimmer on Monday at the Aspen Ideas Festival, which is co-hosted by the Aspen Institute and The Atlantic. Greely is skeptical of this argument. This is not designer babies. This is not super babies. This is selecting embryos, he said.

Greely gets some of his confidence from the limits of science. Geneticists likely wont be able to predict kids behavioral traits, he said, like their aptitude for math or agility on a sports field. But they may be able to anticipate some traits, like intelligence, in broad strokes. Being able to tell parents that this embryo has a 60 percent chance of being in the top half [of their school class], this embryo has a 13 percent chance of being in the top 10 percentI think thats really possible, he said.

Scientists have been screening embryos using a process called preimplantation genetic diagnosis, or PGD, for two and half decades, Greely said. This allows for the detection of some genetic diseases, as well as determining the sex of the embryo. Up until now, it has been expensive and arduous, but with new technologyincluding the expanded use of stem cellsit will become easy, he said. The people most likely to lead the way on easy PGD are those with fertility trouble, he argues, or those who cant have their own biological kids, including same-sex couples. For these people, the process seems to be a clear potential win: Once hopeless, they may soon be able to have biological children of their own.

But if the process does indeed advance in the way Greely predicts, it will come with big ethical challenges. Safety is a big issue, he said. Coercion is a big issue: Will you be forced to do this? No matter how easy PGD becomes, it will always be expensive, meaning that babies from rich families would gain even more advantages over other people before they leave the womb. The procedure also challenges the disability-rights movement, Greely pointed out: It implicitly suggests that some traits, and thus some people, are preferable to others.

Theres very little about our modern lives that a God from 3000 years ago would have expected.

Some critics may also claim this process is against Gods will, Greely added. I dont have a lot of confidence in the intellectual strength of that argument, but I think it has a lot of visceral support.

Despite Greelys skepticism, this seems to be the greatest potential objection to a world of skin-cell babies and intensive genetic screening: It assumes that the creation of life is a matter of pipettes and petri dishes, not something greater. While the widespread use of contraceptives has largely divorced sex from procreation, this process would represent the final severing. As Greely pointed out, the very meaning of sex would change. Most people have sex and it doesnt result in a baby, he said. They do it because they like it. They do it as a token of love. They do it because theyre forced to. They do it to make money. Pleasure, ultimately, will be a main driver of sex, he added.

For the many peoplereligious or notwho believe that life is not ultimately a matter of science, the world of easy PGD may seem disorienting, even morally disturbing. But Greely didnt think religious or moral arguments could persuade someone like him, or society more broadly, that easy PGD isnt a good idea.

If you, coming from a Catholic background, try to convince me, coming from a non-Catholic background ... that wouldnt work for me, he said. I need a more intellectual argument than one based on my faith or the tablets brought down from the mountain for me say this. Theres very little about our modern lives thats natural or what a God from 3000 years ago would have expected or wanted, including all of modern medicine.

As head-spinning as these theoretical ethical challenges are, perhaps easy PGD wont be as common as Greely thinks. After all, he joked, were never going to get rid of teenagers in the back seat of a car.

Continue reading here:
Making Babies, No Sex Necessary - The Atlantic

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