St. Louis is now home to a first-of-its-kind clinic for transgender teens and kids. It's being administered by Washington University Physicians based out of St. Louis Children's hospital.

St. Louis is now home to a first-of-its-kind clinic for transgender teens and kids. It's being administered by Washington University Physicians based out of St. Louis Children's hospital.

St. Louis, MO St. Louis is now home to a first-of-its-kind clinic for transgender teens and kids. Its being administered by Washington University physicians based out of St. Louis Childrens hospital.

The clinic aims to provide transgender children and teens with comprehensive health care including mental health resources, hormonal therapy, voice therapy, and reconstructive surgery. Washington University physicians have been taking care of transgender children and teens since 2009 and noticed the growing demand which sparked the push to establish a fully operating clinic.

In 2016, Washington University physicians had 74 transgender patients. From just January to May 2017, theyve already seen 71 patients.

This clinic is a huge milestone for the Seay family this month, especially for 15-year-old Leslie.

Sometimes I identify as a girl, sometimes a boy, sometimes neither, said Leslie Seay.

She started exploring gender identity at 13-years-old, ultimately assigning to being gender fluid, which means she will always feel a mix of identifying between a boy and a girl.

I would really like to go on hormone blockers so that my voice doesnt get any more feminine and [no] more feminine features show up, said Seay.

Leslies identity is simple to her, so she needs a pediatrician who understands transgender health simply too.

Having support and acceptance is extremely important for this patient population, said Dr. Christopher Lewis, founder and physician of the Transgender clinic. Transgender patients already deal with harassment and discrimination within the medical community and that is a barrier to them accessing care.

Leslies dad, Peter Seay, is thrilled to know his child is in safe, supportive care with an expertise in transgender health.

To find out that the gender center was opening this month was something weve been celebrating for a little while. Weve been very excited about this, said Peter Seay. There could not be a greater value, the gratitude will not stop.

The Transgender Center of Excellence opened the first week of August. They are already booked through mid-September with new patient appointments. Its the only clinic of its kind within a 250-mile radius.

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DEAR MAYO CLINIC: I started taking levothyroxine more than five years ago for hypothyroidism. I had my TSH level tested about six months after I began taking it but have not had it checked since. I recently read a study saying this medication is often prescribed even when it's not necessary. Should I see my doctor to be retested?

Yes. Make an appointment to have your condition re-evaluated at this time. For some people, lifelong treatment of hypothyroidism with the drug levothyroxine is necessary. But studies have found that for many others who have elevated levels of thyroid-stimulating hormone, or TSH, the medication isn't needed. In fact, if it's taken incorrectly or in doses that are too large, levothyroxine can cause harmful side effects.

Your thyroid is a small, butterfly-shaped gland at the base of the front of your neck. The thyroid gland makes two hormones -- triiodothyronine, or T3, and thyroxine, or T4 -- that have a large impact on your health, affecting all aspects of your metabolism. They maintain the rate at which your body uses fats and carbohydrates, help control your body temperature, influence your heart rate, and help regulate the production of proteins. The rate at which your thyroid makes T3 and T4 is regulated by another hormone that your pituitary gland produces, called TSH.

Hypothyroidism, sometimes called underactive thyroid, is a condition in which your thyroid gland doesn't produce enough T3 or T4. When blood tests show that you have high levels of TSH and low levels of T3 or T4 in your body, then a diagnosis of hypothyroidism is clear. Treatment with levothyroxine -- a synthetic version of thyroid hormones -- is necessary in almost all cases. But hypothyroidism is rare, affecting only about 0.2 percent of the population.

Much more common, affecting about 12 percent of the population, is a condition known as subclinical hypothyroidism. With this condition, your TSH level is above normal, but T3 and T4 levels are normal.

If a blood test shows you have subclinical hypothyroidism, and you don't have any symptoms -- such as fluid retention, fatigue, increased sensitivity to cold, constipation, muscle weakness or painful joints -- treatment typically is not recommended. There are a few reasons for that.

First, about 30 percent of people whose condition falls into the category of subclinical hypothyroidism have their TSH levels return to normal within one year without treatment. Only 3 percent per year go on to develop hypothyroidism. Second, if you take too much levothyroxine or if you don't take it correctly, it can negatively affect a variety of your body's systems, including your brain, heart and muscle function. It also can interfere with how your body handles fluid and fats.

If, as in your case, you are receiving treatment for hypothyroidism, it's important to have regular checkups. Testing TSH is one way to see if treatment is working. It's also important for your health care provider to check your T4 levels.

Talk with your health care provider about the goals of treatment, too. If you started taking levothyroxine to control symptoms, make sure that you are seeing some benefit. Also, keep in mind that the symptoms of hypothyroidism often can be vague. If your symptoms don't go away when you're taking thyroid medication, it's possible those symptoms could be linked to another medical condition.

Getting your TSH and T4 levels checked and reviewing any symptoms you may have with your health care provider should help clarify whether you need to continue taking levothyroxine. -- Juan Brito Campana, M.B.B.S., Endocrinology, Mayo Clinic, Rochester.

Mayo Clinic Q & A is an educational resource and doesn't replace regular medical care. Email a question to MayoClinicQ&A@mayo.edu. For more information, visit http://www.mayoclinic.org.

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Regenxbio has joined forces with investment firm OrbiMed and a new nonprofit foundation to create Prevail Therapeutics, a startup focused on new biologics and gene therapiesfor Parkinson's disease (PD).

Prevail will draw on the expertise of the Silverstein Foundation for Parkinson's with GBA, which concentrates on a particular form of the disease caused by mutations in the glucocerebrosidase gene.

The foundation was set up this year by OrbiMed's co-head of private equity Jonathan Silverstein, who was diagnosed with GBA-linked PD in February and is mobilizing efforts to discover a cure for the disease. Silverstein backed the foundation with $10 million of his own money, and is intent on accelerating research into PD with GBA as well as other forms of the disease.

Prevail says it will focus initially on research coming out of the lab of its co-founder and CEO Asa Abeliovich, M.D., Ph.D., who is on the faculty of Columbia University as well as being a scientific adviser to the Silverstein Foundation and co-founder of neurodegenerative disease biotech Alector.

By joining forces with Regenxbio, Prevail launches with an exclusive license to the gene therapy specialist's adeno-associated virus (AAV) based vector technology NAV AAV9 for PD and other neurodegenerative disorders.

Silverstein said that the NAV platform and Dr. Abeliovich's "deep expertise in the molecular mechanisms of neurodegeneration provides us with a promising opportunity to develop potential life-changing therapies for patients suffering from Parkinson's disease and other neurodegenerative diseases."

He told CNBC today that Prevail's board will also have some big names, including Leonard Bell, co-founder and former CEO of Alexion, OrbiMed venture partner and Alexion co-founder Steve Squinto and serial entrepreneur Peter Thompson of Silverback Therapeutics and Corvus Pharmaceuticals.

The new company will initially focus on GBA1, the most common of the PD mutations, which is estimated to be present in up to 10% of U.S. PD patients and perhaps 100,000 people worldwide. The disease mechanism linked to the mutationan accumulation of alpha-synuclein in the brainmay have implications for the broader PD population and other neurodegenerative diseases.

"Many of the drugs we are trying for Parkinson's with GBA may work in the broader Parkinson's population," said Silverstein. The aim will be to get drugs approved for use in GBA patients first, and then expand their use into other patient groups.

The work of the foundation is attracting investment from companies who are not even active in PD, with cancer specialist Celgene today pledging a grant of $5 million.

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Silverstein-backed startup will test gene therapy for Parkinson's - FierceBiotech

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Triangle Business Journal

Pfizer investing $100M in Sanford plant expansion, adding jobs ... Triangle Business Journal Pfizer has confirmed plans to invest $100 million in the expansion of its Sanford research and manufacturing plant. and more »

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Pfizer investing $100M in Sanford plant expansion, adding jobs ... - Triangle Business Journal

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Pfizer has chosen a site in Sanford, North Carolina for a gene therapy production plant, just 40 miles from its recent acquisition Bamboo Therapeutics Inc.

The US drug firm had been search for a site since March.

According to North Carolina Governor Roy Cooper, Pfizer will spend $100m (85m) on the new facility and has also committed $4m to support postdoctoral fellowships in North Carolina universities for training in gene therapy research.

The project will create jobs that deliver a total payroll impact of more than $3.9m each year to the community according to the North Carolina Department of Commerce and the Economic Development Partnership.

The project will be part funded by a $250,000 grant previously awarded to Wyeth which was acquired by Pfizer in 2009 - by the One North Carolina Fund, which helps local Governments attract economic investment.

Bamboo buy

The decision follows a little over a year after the US drug manufacturer acquired Bamboo Therapeutics, a North Carolina-based gene therapy developer.

The deal included a recombinant Adeno-Associated Virus (rAAV) vector design and production technology, a Phase I candidate for Giant Axonal Neuropathy and a preclinical programme targeting Duchenne Muscular Dystrophy (DMD).

Pfizer also gained a 11,000sq ft gene therapy manufacturing facility in Chapel Hill that Bamboo bought from the University of North Carolina in 2016.

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Pfizer chooses Sanford, North Carolina site for $100m gene therapy plant - BioPharma-Reporter.com

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Parker Atchley is your typical four-year-old in many ways. Hes shy at first but usually opens up after he gets to know you, he loves anything with wheels, baseball and splashing in water, and he sticks pretty close to his mom, but a grandma will do if moms not available.

Hes an adorable, blonde boy with dark-rimmed glasses and a stare that makes you feel like hes thoroughly assessing you but that also melts your heart.

He also is suffering from a rare diseaseor at least a disease that only a few have been diagnosed with so far.

Sitting on the floor of her living room in southeast Springfield, Parkers mom, Kathryn Atchley, said they got a diagnosis in January: KIF1A-related disorder. It was a long journey to get to that point.

"When he was around one, we realized that something was off. We weren't sure. The director of the day care he was going to actually called a meeting with us to talk about some concerns because he wasn't walking at that point. He had just started traversing around furniture," she said.

His balance was also off. Kathryn and her husband, Tyler, thought maybe it was an ear or eye problem. They took Parker to a pediatrician, an ear, nose and throat doctor and a neurologist. All tests came back normal. So they enrolled him in physical therapy. As he got older, they held onto hope that Parker would get better, but he didnt and they grew more and more frustrated.

"It started getting really worrisome when we realized that he was losing skills. Two years ago he used to be able to stand up on his own, and he can't do that anymore. He was taking nine steps at a time, and he can't do that anymore," said Kathryn.

The Atchleys took Parker to a second neurologist who recommended genetic testing. They finally got the diagnosis that Kathryn said changed everything.

"Cause then we realized it wasn't just a rare disorder, it was neurodegenerative," she said.

They no longer clung to the hope that Parker was just delayed and that physical therapy could help him catch up.

Dr. Wendy Chung, a physician with Columbia University in New York, saidKIF1A-related disorder is a genetic condition, caused by a mutation in the KIF1A gene, which was identified fairly recentlyin the last 10 years or so. It affects the brain and nervous system and, while some with the disorder are affected mildly, others, including Parker, can have severe disabilities. Those include muscle tightening, spasticity and difficulty developing. The most disheartening thing about the condition, she said, is that its degenerative.

"That is that children take steps back. They lose abilities. They lose vision," said Dr. Chung

The first piece of advice given to the Atchleys by the neurologist was to go online and find other families affected by KIF1A. Kathryn said the doctor had never heard of the disorder before.

"He was very upfront and honest and said, you know, 'I'm learning this as you guys learn it,'" she said.

She found a Facebook support group for families with children who have KIF1A-related disorder, and, at the time, there were only 20 families in the group. Its since grown some as more kids get diagnosed through whole genome testing.

Dr. Chung said shed venture to guess that the vast majority of people with KIF1A-related disorder dont even realize they have this condition.

"There are a lot of individuals out there that have symptoms who just don't know what they are. There's powerful new sequencing and genetic technology to figure that out, and, you know, I think that's what people like me are trying to do is make sure patients get access to that type of testing," said Dr. Chung.

Whole Exome Sequencing, a fairly expensive test that can be cost prohibitive, isnt covered by all insurance companies.

But Dr. Chung said other tests on children to get a diagnosis, such as MRIs and brain scans, are also expensive and dont always result in an answer. And she said having a diagnosis is valuable at many levels.

"Certainly I think for the families just having an answer about what this is and what to expect and what they can do to keep their child healthy and learning and, you know, improve their quality of life or maintain their quality of life, I think is huge if you ask any of the families. I think the other portion of this is that you don't waste your time doing things that are not necessary," she said.

According to Dr. Chung, more diagnoses ofKIF1A-related disorder will hopefully lead to more research to find a cure.

Parents of kids with KIF1A-related disorder, including Kathryn Atchley, are working to raise awareness about the condition and money for research.

"You know, in connecting with other families I think there's a lot of us parents that, 'I don't want to sit by and do nothing and just kind of let the medical community figure it out,'" said Kathryn.

Dr. Chung has taken KIF1A parents under her wing and tells them shes their Sherpatheir guide through a frightening diagnosis up what she calls a large mountain as they try to seek treatment for their children. Currently, treatment is supportive and consists of things like physical therapy, getting seizures under control and helping patients maintain their mobility.

Dr. Chung calls herself an optimistic person and is hopeful a cure will be found one day, but she doesnt know if it will be five, ten or twenty years down the road. She also calls herself a realist and said scientists are just beginning to understand KIF1A-related disorder. But she knows that scientific knowledge, especially in neuroscience is growing much more rapidly than ever before.

"So I'm confident that treatments are going to be available in the future. The question though is, you know, how quickly can we accelerate that? You know...is the future going to be 20 years off? Can we accelerate it to be five years off? And that, I think, is still fundamentally unknown," said Dr. Chung.

After the diagnosis, Kathryn said they began adjusting their hopes and dreams for their son. She couldnt look at Parker without crying.

"And one day I was sitting at the coffee table playing with him, and he trailed tears down my face, and I realized that I was really robbing us of our present with Parker," she said.

Kathryn, who calls herself an optimist in training, doesnt want to stand by and let the disease take away the progress Parker has made. She wants to do all she can to help find a cure.

"I have to get people to care about Parker and the rest of these kids if they're going to have any hope of finding treatment or a cure," she said.

Dr. Chung said funding is needed to support research on genetic disorders like KIF1A. You can find out more and donate at kif1a.org. Read about the Atchley family's journey with KIF1A-related disorder on Kathryn's blog.

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Springfield Mom Works to Raise Awareness after Son Diagnosed with Rare Genetic Disorder - KSMU Radio

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Researchers demonstrate a process known as tissue nanotransfection (TNT). When it comes to healing, this TNT is the bomb.

It's usually bad news to have something growing on your skin, but new technology uses that all important layer as a sort of garden to "grow" whatever types of cells your body might need to treat an injury or disease, be it in a limb or even the brain.

Researchers atthe Ohio State University Wexner Medical Centerhave developed a nanochip that uses a small electrical current to deliver new DNA or RNA into living skin cells, "reprogramming" them and giving them a new function.

"It takes just a fraction of a second. You simply touch the chip to the wounded area, then remove it,"Chandan Sen, director of the Center for Regenerative Medicine and Cell-Based Therapies at Ohio State, said in a statement. "At that point, the cell reprogramming begins."

In a study published in the journal Nature Nanotechnology, Sen's team used a technology called Tissue Nanotransfection (TNT) to create new blood vessels in pigs and mice with badly injured limbs that lacked blood flow.

They zapped the animals' skin with the device, and within about a week, active blood vessels appeared, essentially saving the creatures' legs. The tech was also used to create nerve cells from skin that were then harvested and injected into mice with brain injuries to help them recover.

"By using our novel nanochip technology, injured or compromised organs can be replaced," Sen said. "We have shown that skin is a fertile land where we can grow the elements of any organ that is declining."

While it sounds futuristic, reprogramming skin cells is not a new idea. The ability to change skin into pluripotent stem cells, sometimes called "master" cells, earned a few scientists a Nobel Prize half a decade ago. But the new nanochip approach improves upon that discovery by skipping the conversion from skin to stem cell and instead converting a skin cell into whatever type of cell is desired in a single step.

"Our technology keeps the cells in the body under immune surveillance, so immune suppression is not necessary," Sen says.

By now I think we've all learned that beauty is only skin deep, but it might take a while to learn that the same could go for cures, at least if the system works just as well on people.

Next up, the scientists hope to find out by continuing to test their technology in human trials. The aim is that it could eventually be used to treat all sorts of organ and tissue failure, including diseases like Parkinson's and Alzheimers.

Crowd Control: A crowdsourced science fiction novel written by CNET readers.

Solving for XX:The tech industry seeks to overcome outdated ideas about "women in tech."

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Wild new microchip tech could grow brain cells on your skin - CNET

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The chip has not been tested in humans, but it has been used to heal wounds in mice. Wexner Medical Center/The Ohio State University hide caption

The chip has not been tested in humans, but it has been used to heal wounds in mice.

Scientists have created an electronic wafer that reprogrammed damaged skin cells on a mouse's leg to grow new blood vessels and help a wound heal.

One day, creator Chandan Sen hopes, it could be used to be used to treat wounds on humans. But that day is a long way off as are many other regeneration technologies in the works. Like Sen, some scientists have begun trying to directly reprogram one cell type into another for healing, while others are attempting to build organs or tissues from stem cells and organ-shaped scaffolding.

But other scientists have greeted Sen's mouse experiment, published in Nature Nanotechnology on Monday, with extreme skepticism. "My impression is that there's a lot of hyperbole here," says Sean Morrison, a stem cell researcher at the University of Texas Southwestern Medical Center. "The idea you can [reprogram] a limited number of cells in the skin and improve blood flow to an entire limb I think it's a pretty fantastic claim. I find it hard to believe."

When the device is placed on live skin and activated, it sends a small electrical pulse onto the skin cells' membrane, which opens a tiny window on the cell surface. "It's about 2 percent of the cell membrane," says Sen, who is a researcher in regenerative medicine at Ohio State University. Then, using a microscopic chute, the chip shoots new genetic code through that window and into the cell where it can begin reprogramming the cell for a new fate.

Sen says the whole process takes less than 0.1 seconds and can reprogram the cells resting underneath the device, which is about the size of a big toenail. The best part is that it's able to successfully deliver its genetic payload almost 100 percent of the time, he says. "No other gene delivery technique can deliver over 98 percent efficiency. That is our triumph."

Chandan Sen, a researcher at Ohio State University, holds a chip his lab created that has reprogrammed cells in mice. Wexner Medical Center/The Ohio State University hide caption

Chandan Sen, a researcher at Ohio State University, holds a chip his lab created that has reprogrammed cells in mice.

To test the device's healing capabilities, Sen and his colleagues took a few mice with damaged leg arteries and placed the chip on the skin near the damaged artery. That reprogrammed a centimeter or two of skin to turn into blood vessel cells. Sen says the cells that received the reprogramming genes actually started replicating the reprogramming code that the researchers originally inserted in the chip, repackaging it and sending it out to other nearby cells. And that initiated the growth of a new network of blood vessels in the leg that replaced the function of the original, damaged artery, the researchers say. "Not only did we make new cells, but those cells reorganized to make functional blood vessels that plumb with the existing vasculature and carry blood," Sen says. That was enough for the leg to fully recover. Injured mice that didn't get the chip never healed.

When the researchers used the chip on healthy legs, no new blood vessels formed. Sen says because injured mouse legs were was able to incorporate the chip's reprogramming code into the ongoing attempt to heal.

That idea hasn't quite been accepted by other researchers, however. "It's just a hand waving argument," Morrison says. "It could be true, but there's no evidence that reprogramming works differently in an injured tissue versus a non-injured tissue."

What's more, the role of exosomes, the vesicles that supposedly transmit the reprogramming command to other cells, has been contentious in medical science. "There are all manners of claims of these vesicles. It's not clear what these things are, and if it's a real biological process or if it's debris," Morrison says. "In my lab, we would want to do a lot more characterization of these exosomes before we make any claims like this."

Sen says that the theory that introduced reprogramming code from the chip or any other gene delivery method does need more work, but he isn't deterred by the criticism. "This clearly is a new conceptual development, and skepticism is understandable," he says. But he is steadfast in his confidence about the role of reprogrammed exosomes. When the researchers extracted the vesicles and injected them into skin cells in the lab, Sen says those cells converted into blood vessel cells in the petri dish. "I believe this is definitive evidence supporting that [these exosomes] may induce cell conversion."

Even if the device works as well as Sen and his colleagues hope it does, they only tested it on mice. Repairing deeper injuries, like vital organ damage, would also require inserting the chip into the body to reach the wound site. It has a long way to go before it can ever be considered for use on humans. Right now, scientists can only directly reprogram adult cells into a limited selection of other cell types like muscle, neurons and blood vessel cells. It'll be many years before scientists understand how to reprogram one cell type to become part of any of our other, many tissues.

Still, Morrison says the chip is an interesting bit of technology. "It's a cool idea, being able to release [genetic code] through nano channels," he says. "There may be applications where that's advantageous in some way in the future."

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A Chip That Reprograms Cells Helps Healing, At Least In Mice - NPR

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Technologies that reprogram one type of cell to perform the role of another hold a huge amount of potential when it comes to medicine, possibly changing the way we treat everything from Parkinson's to pancreatic cancer to brain tumors. One broader outcome of all of this could be a game-changing ability to repair and restore damaged tissue and organs. Scientists are now reporting a promising advance in the area, in the form of patch that they say can use an electric pulse to turn skin cells into the building blocks of any organ.

The new technology has been dubbed tissue nanotransfection and was developed by scientists at The Ohio State University's Wexner Medical Center. According to the researchers, it uses the skin as a kind of regenerative cellular factory, where it produces any cell type that can then be used to repair injured or aging tissues, organs and blood vessels. It consists of a nanotechnology-based chip that is applied to the skin, which is then struck with a short electric pulse to deliver genetic instructions into the cells of the tissue.

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"These are genes that induce tissue plasticity allowing the flexibility to direct the fate," Chandan Sen, first author of the paper, explains to New Atlas. "Thus, for example, skin cells can be directed to form blood vessels, or neural cells, or some other cell of interest."

We have seen a number of promising approaches to reprogramming cells for various regenerative health purposes. In 2012, a Japanese researcher won a Nobel Prize for his discovery that skin cells from mice could be harvested and converted into stem cells in the lab, work that has inspired a number of exciting breakthroughs since.

But according to Sen, one of the main advantages his tissue nanotransfection technology holds over other approaches is the fact that the cell conversion takes place in the body. This avoids the thorny issue of immune response, in which the host cells react to the newcomers and possibly attack them, something that can cause a raft of complications.

"Ours is reprogramming of not just cells but tissue within the live body under immune surveillance," he tells us. "Our strategy must co-operate with physiological factors to achieve the end goal."

That end goal is still a while away, but his team is making promising progress all the same. It put the technology to the test on animals, and in one experiment involving mice with badly injured legs lacking blood flow, it was able to convert skin cells into vascular cells. Within about a week, the legs featured active blood vessels. By the second week they were saved.

In a separate experiment, the team was also able to use the technology to reprogram skin cells into nerve cells, which were then injected into brain-injured mice to assist with stroke recovery.

"This is difficult to imagine, but it is achievable, successfully working about 98 percent of the time," said Sen. "With this technology, we can convert skin cells into elements of any organ with just one touch. This process only takes less than a second and is non-invasive, and then you're off. The chip does not stay with you, and the reprogramming of the cell starts. Our technology keeps the cells in the body under immune surveillance, so immune suppression is not necessary."

The team hopes to move onto clinical trials some time next year, but Sen tells us they must first test the technology on larger animals and design the device to work on humans.

You can hear from Sen in the video below, while the research was published in the journal Nature Nanotechnology.

Source: Ohio State University

Link:
Chip reprograms skin cells with a short electric pulse - New Atlas

Recommendation and review posted by Bethany Smith

A med-tech startup has developed a fast and easy way to treat certain burn wounds with stem cells. This technology is developed by German researcher Dr. Jrg Gerlach. He is the worlds first ever person who use a patients stem cells to directly heal the skin. The technique is meant to reduce the healing time and minimize complications, with aesthetically and functionally satisfying outcomes. There are no scars, no residual pain and its like there wasnt any burn to start with. Its not less than a miracle.

The medical technology startup has now transformed the proof-of-concept device from a complicated prototype into a user-friendly product called a SkinGun, which it hopes doctors will be able to use outside of an experimental setting. RenovaCare CEO Thomas Bold believes, the SkinGun can compete with, or even replace, todays standard of care. The sprayer allows us to have a generous distribution of cells on the wound, explained Roger Esteban-Vives, director of cell sciences at RenovaCare.

RenovaCares SkinGun sprays a liquid suspension of a patients stem cells onto a burn or wound in order to re-grow the skin without scars. Stem-cell methods helped cut this risk by quickening healing and providing a source of new skin from a very small area. Cell Mist method gets a greater yield from its harvest than mesh grafting, a more common way to treat burns. At a maximum, grafting can treat six times the size of its harvest area. Cell Mist can cover 100 times its harvest area.

When dispensing cells over a wound, its important that they make the transition without any damage. Damaged cells reduce the effectiveness of the treatment.

High cell viability also contributes to faster healing. When a wound heals naturally, cells migrate to it to build up the skin. That process can take weeks.

Stem cells have tremendous promise to help us understand and treat a range of diseases, injuries and other health-related conditions.

There is still a lot to learn about stem cells, however, and their current applications as treatments are sometimes exaggerated by the media and other parties who do not fully understand the science and current limitations

Beyond regulatory matters, there are also limitations to the technology that make it unsuitable for competing with treatments of third-degree burns, which involve damage to muscle and other tissue below the skin.

When burn victims need a skin graft they typically have to grow skin on other parts of their bodies. This is a process that can take weeks. A new technique uses stem cells derived from the umbilical cord to generate new skin much more quickly.The umbilical cord consists of a gelatinous tissue that contains uncommitted mesenchymal stemcells (MSC)

Research is underway to develop various sources for stem cells, and to apply stem-cell treatments for neurodegenertive diseasesand conditions such as diabetes, heart disease, and other conditions.

Tens of thousands of grafts are performed each year for burn victims, cosmetic surgery patients, and for people with large wounds having difficulty healing. Traditionally, this involves taking a large patch of skin (typically from the thigh) and removing the dermis and epidermis to transplant elsewhere on the body. Burns victims are making incredible recoveries thanks to a revolutionary gun that sprays stem cells on to their wounds, enabling them to rapidly grow new skin. Patients who have benefited say their new skin is virtually indistinguishable from that on the rest of the body.

Thomas Bold, chief executive of RenovaCare, the company behind SkinGun, said: The procedure is gentler and the skin that regrows looks, feels and functions like the original skin.

If you are planning to have stem cell treatments dont forget to remember these points

Stem cell researchers are making great advances in understanding normal development. They are trying to figure out what goes wrong in disease and developing and testing potential treatments to help patients. They still have much to learn. However, about how stem cells work in the body and their capacity for healing. Safe and effective treatments for most diseases, conditions and injuries are in the future.

Excerpt from:
Miraculous Burn-Healing Through Stem Cell Treatment - Fox Weekly

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Japanese pharma major Daiichi Sankyo (TYO: 4568) revealed this morning that it has signed an investment contract with Cuorips Inc, an Osaka University spin-off venture to receive an option right concerning the worldwide commercialization of iPS-derived cardiomyocyte (iPS-CM) sheet developed by Cuorips.

The iPS-CM sheet is an allogeneic cell therapy product consisting of cardiomyocyte derived from human iPS cells. Its transplantation is expected to provide improvement of cardiac function and amelioration of heart failure and become a new treatment option for patients with severe heart failure, who have no remedies other than heart transplantation or artificial heart implantation.

Based on the cutting-edge cell therapy research targeting heart diseases, the team at the Department of Cardiovascular Surgery, Osaka University Graduate School of Medicine, led by Professor Yoshiki Sawa, has been working on the iPS-CM research and development by participating in the Research Center Network for Realization of Regenerative Medicine, which is run by the Japan Agency for Medical Research and Development (AMED). They are currently preparing for clinical research as well as investigator initiated clinical study.

Cuorips was founded to develop and commercialize iPS-CM sheets based on the research data and technologies developed by the university.

Daiichi Sankyo has been conducting research on iPS cell-derived cardiomyocyte and their production, and is currently working on the efficient production process capable for commercial supply. Daiichi Sankyo and Cuorips are aiming to commercialize iPS-CM sheets as a pioneering treatment for severe heart failure.

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Daiichi Sankyo invests in Osaka University spin-off - The Pharma Letter (registration)

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Lipocine Inc. (NASDAQ: LPCN), a specialty pharmaceutical company, today announced the resubmission of a New Drug Application (NDA) for LPCN 1021, its oral testosterone product candidate for testosterone replacement therapy (TRT) in adult males for conditions associated with a deficiency of endogenous testosterone, also known as hypogonadism.

Lipocine had previously submitted an NDA for LPCN 1021 and received a Complete Response Letter (CRL) from the U.S. Food and Drug Administration (FDA) in June 2016. The CRL identified a deficiency related to the dosing algorithm for the proposed label. With the goal of addressing this deficiency, the company successfully completed a dosing validation (DV) study, which confirmed the validity of a fixed dose approach without the need for dose titration to orally administer LPCN 1021. The efficacy results of the DV study, as well as an integrated safety set (ISS) from all previously conducted clinical trials, including 52-week safety results from the Phase 3 Study of Androgen Replacement (SOAR) clinical study, form the basis for the NDA resubmission.

Resubmission of this NDA as planned is an important milestone in bringing LPCN 1021 to patients, said Dr. Mahesh Patel, Chairman, President and Chief Executive Officer of Lipocine. We believe the results from the recently completed DV study address the label-related deficiency identified by the FDA in the CRL. We consider LPCN 1021 to be a differentiated TRT option for treating hypogonadism in men. We anticipate a six-month review by the FDA with a projected PDUFA date in the first quarter of 2018 assuming the FDA acknowledges our submission is a complete response.

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Lipocine (LPCN) Resubmits NDA for Oral Testosterone Product Candidate, LPCN 1021, for Treatment of Hypogonadism - StreetInsider.com

Recommendation and review posted by simmons

A sleeping brain can form fresh memories, according to a team of neuroscientists.The researchers played complex sounds to people while they were sleeping, and afterward the sleepers could recognizethose sounds when they wereawake.

The idea that humans canlearn while asleep, a concept sometimes called hypnopedia, has a long and odd history. It hit a particularly strange note in 1927, when New York inventor A. B. Saliger debuted thePsycho-phone. He billed the device as anautomatic suggestion machine. The Psycho-phone was a phonograph connected to a clock. It playedwax cylinder records, which Saliger made and sold.The records hadnames like Life Extension, Normal Weight orMating. That last one went: I desire a mate. I radiate love My conversation is interesting. My company is delightful. I have a strong sex appeal.

Thousands of sleepers bought the devices, Saligertold theNew Yorkerin 1933. (Those included Hollywood actors,he said, though he declined to name names.) Despite his enthusiasm for the machine Saligerhimself dozed off to Inspiration and Health the device was a bust.

But the idea that we can learn while unconscious holds more meritthan gizmos namedPsycho-phone suggest. In the new study, published Tuesday in the journalNature Communications, neuroscientistsdemonstrated that it is possible to teach acoustic lessons to sleeping people.

We proved that you can learn during sleep, which has been a topic debated for years, said Thomas Andrillon, an author of the study and a neuroscientist at PSL Research University in Paris.Just don't expect Andrillon's experiments to make anyonefluent in French.

Researchersin the 1950s dismantled hypnopedia's more outlandish claims. Sleepers cannot wake up with brains filled withnew meaning or facts, Rand Corp. researchers reported in 1956. Instead, test subjectswho listened to trivia at night woke up with non-recall. (Still, the Psycho-phone spirit endures, at least in the app store, where hypnopedia software claims to promoteforeign languages, material wealth andmartial artsmastery.)

Yet success is possible, if you're not trying to learn dictionary definitions or kung fu. In recent years, scientists have trained sleepers to make subconscious associations. In a 2014 study, Israeli neuroscientists had 66 people smell cigarette smoke coupled with foul odorswhile they were asleep. The test subjects avoided smoking for two weeks after theexperiment.

In the new research, Andrillon and his colleagues moved beyondassociation into pattern learning. While a group of20 subjects was sleeping, the neuroscientists played clips of white noise. Most of the audio was purely random, Andrillon said. There is no predictability. But there were patterns occasionally embedded within the complex noise: sequences of a single clip of white noise, 200 milliseconds long, repeated five times.

The subjects remembered the patterns. The lack ofmeaning worked in their favor; sleepers can neither focus on what they're hearing nor make explicit connections, the scientist said. This is why nocturnal language tapes don't quite work thebrain needs to register sound and semantics.But memorizing acoustic patterns like white noise happens automatically. The sleeping brain is including a lot of information that is happening outside, Andrillon said, and processing it to quite an impressive degree of complexity.

Once the sleepersawoke, the scientists played back the white-noise recordings. The researchers asked the test subjects to identify patterns within the noise. It's not an easy task,Andrillon said, and one that you or I would struggle with. Unless you happened to rememberthe repetitions from a previous night's sleep. The test subjects successfullydetected the patterns far better than random chance would predict.

What's more, the scientists discovered that memories of white-noise pattern formed only during certain sleep stages. When the authors played the sounds during REM and light sleep, the test subjects could remember the pattern the next morning. Duringthe deeper non-REM sleep, playing the recording hampered recall. Patternspresented during non-REM sleep led to worse performance,as if there were a negative form of learning, Andrillon said.

This marked the first time that researchers had evidence for the sleep stages involved in the formation of completely new memories, said Jan Born, a neuroscientist at the Universityof Tbingen in Germany, who was not involved with the study.

In Andrillon's view, the experiment helps to reconcile two competing theories about the role of sleep in new memories: In one idea,our sleeping brains replay memories from our waking lives. Asthey're played back, the memories consolidate and grow stronger, written more firmly into our synapses. In the other hypothesis, sleep instead cuts away at older, weaker memories. But the ones that remain stand out, like lonely trees in a field.

The study indicates that the sleeping brain can do both,Andrillon said. They might simply occur at separatemoments in the sleep cycle, strengthening fresh memories followed by culling.

A separate team of neuroscientists had suspected that the two hypotheses might be complementary. But until now they did not have any explicit experimental support. It is a delight to see these results, since we proposed already, quite a few years ago, that the different sleep stages may have a different impact on memory, said Lisa Genzel,aneuroscientist atRadboud University in the Netherlands. And here they are the first to provide direct evidence for this idea.

Not all neuroscientists were so convinced. Born, an early proponent of the idea that sleep strengthens andconsolidates memories, said this study showed what happens when we form memories while asleep. The average memorya recollection from a waking experience might not work in the same way, he said. I would be skeptical about inferring from this type of approach to what happens during normal sleep.

Andrillon acknowledged the limitations ofthis research, including thatthe scientists did not directly measure synapses. We interpret our results in the light of cellular mechanisms, he said, meaning strengthening or weakening of synapses, that we could not directly measure, since they require invasive recording methods that cannot be applied in humans.

When asked whether understanding the roles of sleep cycles and memory could lead to future sleep-hacks, a la thePsycho-phone,Andrillonsaid, We are in the big unknown. But, he noted, sleep is not just about memory. Trying to hijack the recommended seven-plus hours of sleep could disrupt normal brain function. Which is to say, even if you could learn French while asleep, it mightultimately do more harm than good. I would be very cautious about the interest in this kind of learning, he said, whether this is detrimental to the other functions of sleeping.

Read more:

Climate change is keeping Americans awake at night. Literally.

Meet the scientist who dreams of fixing your sleep

Dear Science: How do I stop snoring?

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Your brain can form new memories while you are asleep ... - Washington Post

Recommendation and review posted by sam

The Doppler radar located in Blacksburg, Virginia was shut down August 1st for a nation wide project called the Service Life Extension Program, or SLEP.

The WSR-88D or NEXRAD radars were built with a service life of 20 years. The program started over 20 years ago and the purpose of the SLEP program is to bring the radar up to date with the newest technology. This upgrade would extend the life of the radar into the 2030s.

After installation of the new hardware and software, engineers ran test on the radar before placing it into operation and found a larger problem -- a cracked bearing on the main gear that moves the radar. The unit was immediately turned off.

To repair the bearing and the bull gear the entire dome and 28 foot radar dish will need to be removed. This will require a 6 person team and heavy equipment to make the repairs. The team is currently doing the same repair in Ohio and will make their way to Blacksburg next week. The work is schedule to be complete by August 30.

In the meantime, multiple radar sites can cover our area and will be unnoticeable to app or website users. The NWS can attempt to run the radar in a time of need is a tornadic storm or a tropical system were to impact the region before the engineering team starts the repair work.

Link:
Local Doppler radar down through end of August - WDBJ7

Recommendation and review posted by Bethany Smith

Transhumanists are curiosity addicts. If its new, different, untouched, or even despised, were probably interested in it. If it involves a revolution or a possible paradigm shift in human experience, you have our full attention. We are obsessed with the mysteries of existence, and we spend our time using the scientific method to explore anything we can find about the evolving universe and our tiny place in it.

Obsessive curiosity is a strange bedfellow. It stems from a profound sense of wanting something better in lifeof not being satisfied. It makes one search, ponder, and strive for just about everything and anything that might improve existence. In the 21st century, that leads one right into transhumanism. Thats where Ive landed right now: A journalist and activist in the transhumanist movement. Im also currently a Libertarian candidate for California Governor. I advocate for science and tech-themed policies that give everyone the opportunity to live indefinitely in perfect health and freedom.

Politics aside, transhumanism is the international movement of using science and technology to radically change the human being and experience. Its primary goal is to deliver and embrace a utopian techno-optimistic worlda world that consists of biohackers, cyborgists, roboticists, life extension advocates, cryonicists, Singularitarians, and other science-devoted people.

Transhumanism was formally started in 1980s by philosophers in California. For decades it remained low key, mostly discussed in science fiction novels and unknown academic conferences. Lately, however, transhumanism seems to be surging in popularity. What once was a smallish band of fringe people discussing how science and technology can solve all humanitys problems has now become a burgeoning social mission of millions around the planet.

At the recent FreedomFest, the worlds largest festival on liberty, transhumanism was a theme explored in numerous panels, including some I had the privilege of being on. Libertarian transhumanism is one of the fastest growing segments of the libertarian movement. A top priority for transhumanists is to have freedom from the government so radical science experiments and research can go on undisturbed and unregulated.

So why are so many people jumping on the transhumanist bandwagon? I think it has to do with the mishmash of tech inundating and dominating our daily lives. Everything from our smartphone addictions to flying at 30,000 feet in jet airplanes to Roombas freaking out our pets in our homes. Nothing is like it was for our forbearers. In fact, little is like it was even a generation ago. And the near future will be many times more dramatic: driverless cars, robotic hearts, virtual reality sex, and telepathy via mind-reading headsets. Each of these technologies is already here, and in some cases being marketed to billions of people. The world is shifting under our feetand libertarian transhumanism is a sure way to navigate the chaos to make sure we arrive at the best future possible.

My interest in transhumanism began over 20 years ago when I was a philosophy and religion student at Columbia University in New York City. We were assigned to read an article on life extension techniques and the strange field of cryonics, where human beings are frozen after theyve died in hopes of reviving them with better medicine in the future. While Id read about these ideas in science fiction before, I didnt realize an entire cottage industry and movement existed in America that is dedicated to warding off death with radical science. It was an epiphany for me, and I knew after finishing that article I was passionately committed to transhumanism and wanted to help it.

However, it wasnt until I was in the Demilitarized Zone of Vietnam, on assignment for National Geographic Channel as a journalist, that I came to dedicate my life to transhumanism. Walking in the jungle, my guide tackled me and I fell to the ground with my camera. A moment later he pointed at the half-hidden landmine I almost stepped on. Id been through dozens of dangerous experiences in the over 100 countries I visited during my twenties and early thirtieshunting down wildlife poachers with WildAid, volcano boarding in the South Pacific, and even facing a pirate attack off Yemen on my small sailboat where I hid my girlfriend in the bilge and begged masked men with AK47s not to shoot me. But this experience in Vietnam was the one that forced a U-turn in my life. Looking at the unexploded landmine, I felt like a philosophical explosive had gone off in my head. It was time to directly dedicate my skills and hours to overcoming biological human death.

I returned home to America immediately and plunged into the field of transhumanism, reading everything I could on the topic, talking with people about it, and preparing a plan to contribute to the movement. I also began by writing my libertarian-minded novel The Transhumanist Wager, which went on to become a bestseller in philosophy on Amazon and helped launched my career as a futurist. Of course, a bestseller in philosophy on Amazon doesnt mean very many sales (theres been about 50,000 downloads to date), but it did mean that transhumanism was starting to appear alongside the ideas of Plato, Marx, Nietzsche, Ayn Rand, Sam Harris, and other philosophers that inspired people to look outside their scope of experience into the unknown.

And transhumanism is the unknown. Bionic arms, brain implants ectogenesis, artificial intelligence, exoskeleton suits, designer babies, gene editing tech. These technologies are no longer part of some Star Trek sequel, but are already here or being worked on. They will change the world and how we see ourselves as human beings. The conundrum facing society is whether were ready for this. Transhumanists say yes. But America may not welcome that.

In fact, the civil rights battle of the century may be looming because of coming transhumanist tech. If conservatives think abortion rights are unethical, how will they feel about scientists who want to genetically combine the best aspects of species, including humans and animals together? And should people be able to marry their sexbots? Will transhumanist Christians try to convert artificial intelligence and lead us to something termed a Jesus Singularity? Should we allow scientists to reverse aging, something researchers have already had success with in mice? Finally, as we become more cyborg-like with artificial hips, cranial implants, and 3D-printed organs, should we rename the human species?

Whether people like it or not, transhumanism has arrived. Not only has it become a leading buzzword for a new generation pondering the significance of merging with machines, but transhumanist-themed columns are appearing in major media. Celebrity conspiracy theorists like Mark Dice and Alex Jones bash it regularly, and even mainstream media heavyweights like John Stossel, Joe Rogan, and Glenn Beck discuss it publicly. Then theres Google hiring famed inventor Ray Kurzweil as lead engineer to work on artificial intelligence, or J. Craig Ventures new San Diego-based genome sequencing start-up (co-founded with Peter Diamandis of the X-Prize Foundation and stem cell pioneer Robert Hariri) which already has 70 million dollars in financing.

Its not just companies either. Recently, the British Parliament approved a procedure to create babies with material from three different parents. Even President Obama, before he left office, jumped in the game by giving DARPA $70 million dollars to develop brain chip technology, part of Americas multi-billion dollar BRAIN Initiative. The future is coming fast, people around the world are realizing, and theres no denying that the transhumanist age fascinates tens of millions of people as they wonder where the species might go and what health benefits it might mean for society.

At the end of the day, transhumanism is still really focused on one thing: satisfying that essential addiction to curiosity. With science, technology, and a liberty-minded outlook as our tools, the species can seek out and even challenge the very nature of its being and place in the universe. That might mean the end of human death by mid-century if governments allow the science and medicine to develop. It will likely mean the transformation of the species from biological entities into something with much more tech built directly into it. Perhaps most important of all, it will mean we will have the chance to grow and evolve with our families, friends, and loved ones for as long as we like, regardless how weird or wild transhumanist existence becomes.

Zoltan Istvan is the author of The Transhumanist Wager, and a Libertarian candidate for Governor in California.

Continue reading here:
The Growing World of Libertarian Transhumanism - The American Conservative

Recommendation and review posted by Bethany Smith

Genetic variation is an unavoidable feature of life. As a consequence of this and unless you are an identical twin you are genetically unique. You have a distinctive combination of genetic variants, almost all of which are shared with your parents, although shuffled into new combinations. With few exceptions, all of your characteristics, such as hair colour, height, ear wax quality, and disease susceptibility, are influenced by your genetics.

As a consequence, increasing numbers of people want to learn more about their genetic inheritance, which can be driven by a desire to find out whether they are carriers of, or possibly sufferers from, serious genetic disease. Other people are interested in what a genetic test might be able to tell them about their ancestry. Some people are simply curious.

Direct-to-consumer genetic testing companies which provide genetic tests based on a saliva sample that you send in from home have proliferated in response to this demand in recent years. Big names include 23andMe, AncestryDNA and Orig3n.

But what can these tests actually tell you about disease risk? And how reliable are ancestry predictions derived from an analysis of your genetic makeup?

The key problem in understanding both disease risk and genetic ancestry when interpreting someones results is that our knowledge of both is mostly based on studying large populations. The person taking the test will want specific, personal predictions but extrapolating results from population level measures of genetic risk to that of the individual isnt straightforward.

For instance, our understanding of the genetic basis of a given human trait comes from making statistical associations between the trait and a specific genetic variant. For rare genetic diseases, such as Huntingtons Disease, the connection between the disease and the genetic variant that causes it is very strong, so disease risk can be predicted with some confidence. For more common diseases, or traits such as height and BMI, however, there are hundreds of genetic variants that make relatively small contributions to these. Predictions of individual risk in these cases then becomes extremely hard.

The difficulty in making personal disease risk predictions becomes more apparent when you discover that the most comprehensive direct-to-consumer genetic tests look for about 700,000 genetic variants. This sounds like a lot, but it is actually only a fraction of the genetic diversity that exists in each person. And without knowing the full complement of genetic variants, risk predictions for most diseases will be inaccurate. What this means is that at the level of an individual, our understanding of the genetic basis for most human traits is incomplete, complex and messy.

Ultimately, what most people will learn from such genetic tests will be of limited health care value; you are much better off putting the money you would spend on a genetic test towards a gym membership, or a pair of trainers something that will have a proven effect on health and well-being.

Our individual genetic diversity is obviously influenced by our ancestry, and some genetic testing companies will offer to connect you to famous people in the past, or to particular locations. However, here again we encounter the problem of inferring individual narratives from population-based information as what we know about human ancestry comes from studying the genetic histories of populations, not individuals.

And as your genome the complete set of your genes is a patchwork of your ancestors DNA, each segment will have a different pattern of ancestry. This is why scientists have called statements about your ancestry based on genetic testing genetic astrology. Put simply, what genetic testing says about your ancestry may seem personal and precise, but could be true of thousands, possibly millions, of other people.

For instance, if we assumed European ancestry then I wouldnt need to charge your credit card or ask for a cheek swab to tell you that Abd-ar-Rahman III, the founder of the Caliphate of Crdoba (and descendant of the Prophet Mohammed), is your ancestor. Recent studies suggest that every person living in Europe about 1,000 years ago, if they left descendants, is an ancestor of every European today.

This is consistent with an earlier global mathematical modelling approach, which made the more startling prediction that every individual alive several thousand years ago (2,000-5,000BC, depending on the parameters of the model), assuming they left descendants, was the ancestor of every living person today. Everyone. So, without doing a genetic test, I can tell you, whoever you are, that you are descended from the people who founded Mesopotamia, as well as the rice farmers living on the banks of the Yangtze river. And theyre my ancestors, too.

Ultimately, genetic home testing can be an entertaining way of engaging with your genome. However, if you are wanting to get a better perspective on your personal disease risk, these kits are no substitute for professional healthcare services. And they are unlikely to tell you anything profound about your ancestral connections to famous people or locations in history.

This article was amended on August 9 to replace the emperor Justinian I with Abd-ar-Rahman III.

Read more here:
Genetic home testing: why it's not such a great guide to your ancestry or disease risk - The Conversation UK

Recommendation and review posted by Bethany Smith

Julian Cappelli, 16, who has cerebral palsy, enjoys some time with his mother Donna in their Toronto home. A new study from Holland Bloorview and SickKids has found there's a stronger genetic link in cases of hemiplegic cerebral palsy, the most common form of CP, than previously thought.(Bernard Weil / Toronto Star) | Order this photo

By Ainslie CruickshankStaff Reporter

Tues., Aug. 8, 2017

Researchers say genetic testing should be standard practice when diagnosing cerebral palsy after a new study found that genetic variations could be a factor in hemiplegic cerebral palsy, the most common form of the motor disability.

Standardizing a genetic workup for children with cerebral palsy, though, would depend on government funding.

There should be genetic testing that happens as soon as possible; thats the take home message in this study, said Stephen Scherer, director of the Centre for Applied Genomics at SickKids and one of the authors of the study, which was done by researchers at Holland Bloorview Kids Rehabilitation Hospital and the Hospital for Sick Children.

For families, genetic testing could help explain why their child developed cerebral palsy. For researchers, it offers new directions for research aimed at preventing and treating the condition, which affects three out of every 1,000 children born in Canada each year.

The impact of this I think is going to be very, very significant, Scherer said.

Sitting in the kitchen of his east-end home, Julian Cappelli, 16, is wearing a red Toronto FC T-shirt. Soccers his favourite sport and TFC is his favourite team.

Julian has quadriplegic cerebral palsy, which affects all four of his limbs. His family received that diagnosis when he was one year old. Julian said if he had the chance to have genetic testing done, hed take it. Even 15 years later, he wants to know why he has a motor condition that, for him, means he wont get the chance to try for a professional soccer career.

His mom, Donna, doesnt spend much time anymore wondering why he has cerebral palsy. Were kind of just moving forward and dealing with what we have, she said.

But that doesnt mean shes not excited about the new research. She is.

She remembers what it was like 15 and 16 years ago, wanting answers.

It was so overwhelming and you do want to know: Why did this happen? Was it something that you did?

Its good to see that theyre still looking into the reasons why this is happening and trying to help prevent it and make these kids lives better, she said.

Cerebral palsy is the most common physical disability in children, said Dr. Darcy Fehlings, a senior clinician scientist at Holland Bloorview specializing in cerebral palsy research and another of the studys authors.

Although it is a permanent disability that affects childrens motor movements, it manifests itself differently in every child. In some cases, children may have difficulty using their hands or walking. In other cases, they may have trouble communicating or might need to use a wheelchair.

Though cerebral palsy is often thought to be caused when a baby doesnt get enough oxygen before, during or after birth, causing damage to their brain or other organs, by stroke or infection in a childs brain, researchers found a significant genetic link in hemiplegic cerebral palsy, which affects only one side of the body.

The study, published in the Genetics in Medicine journal and promoted by Nature.com, outlines the results of DNA analysis on 97 children with hemiplegic cerebral palsy and their parents compared with more than 10,000 population control samples.

The researchers found that structural variations to the DNA that affect the genes for brain development and function were factors in 20 per cent of hemiplegic cerebral palsy cases and probably the major cause in five per cent of cases.

We didnt even look for this before, Scherer said. In retrospect, we should have.

Diagnosing cerebral palsy can be difficult, especially in children, who arent fully developed. In about 10 per cent of cases, children diagnosed with cerebral palsy may actually have a different disorder, he said. A genetic workup can help confirm the diagnosis and make sure the best treatment plan is developed.

In a statement, a spokesperson for the Ministry of Health and Long-Term Care said the ministry recognizes the importance of genetic testing in providing patient care.

Generally, with new or emerging tests, the test would undergo evidence-based evaluation that would guide decisions whether or not the test is used as part of routine standard of care, and making the best use of public healthcare resources.

Genetic testing is already used to help diagnose and develop treatment for cystic fibrosis and muscular dystrophy. More recently, it is being used to help diagnose and develop treatment for autism spectrum disorder.

Theres way more data here than we had in our early autism studies, Scherer said.

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Researchers call on province to fund genetic testing for cerebral ... - Toronto Star

Recommendation and review posted by simmons

Updated Aug. 8, 2017 at 7:02 a.m.

Published: 2017-08-07 16:07:00 Updated: 2017-08-08 07:02:05

Sanford, N.C. Pharmaceutical giant Pfizer Inc. plans to invest $100 million in its Sanford operations as part of a push into gene therapy, officials said Monday.

The effort builds on a technology developed at the University of North Carolina at Chapel Hill and will create 40 jobs in Sanford.

"Pfizer is proud to further expand our presence in North Carolina, particularly as we build our leadership in gene therapy," Lynn Bottone, site leader at Pfizer Sanford, said in a statement. "We look forward to the next phase of this expansion as we build a clinical and commercial manufacturing facility."

Preliminary work on the expansion and initial hiring have already begun. The 230-acre campus employs about 450 people, reports the N.C. Biotechnology Center.

Gene therapy is a potentially transformational technology for patients that involves highly specialized, one-time treatments to address the root cause of diseases caused by genetic mutation. The technology involves introducing genetic material into the body to deliver a correct copy of a gene to a patients cells to compensate for a defective or missing gene.

Last year, Pfizer acquired Bamboo Therapeutics Inc., a privately held biotechnology company in Chapel Hill focused on developing gene therapies for the potential treatment of patients with certain rare diseases related to neuromuscular conditions and those affecting the central nervous system. Pfizer also committed $4 million to support postdoctoral fellowships in North Carolina universities for training in gene therapy research.

"We are excited that Carolinas research will improve lives and create jobs for North Carolinians," UNC-Chapel Hill Chancellor Carol Folt said in a statement. "This is a perfect example of how placing innovation at the center of our university creates new opportunities. We are proud to be a part of the technologies, expertise and infrastructure that went into Bamboo Therapeutics and helped make this manufacturing expansion in Sanford possible. Gene therapy is a strength at Carolina, and we look forward to continue to help advance this industry."

Pfizer is also expanding a drug-manufacturing facility in Rocky Mount that it acquired from Hospira in 2015. The $190 million project will add 65,000 square feet of sterile injectable facilities but will not create any new jobs. The plant employs about 300 people.

Gov. Roy Cooper visited Pfizers Sanford facility last week to take a tour and meet with the companys senior leaders.

"North Carolina is one of the few places in the country with the biotech resources to take an idea all the way from the lab to the manufacturing line," Cooper said in a statement. "Pfizers investment in Lee County is a prime example of how North Carolinas world-class universities and cutting-edge industries work together to move our state forward."

Pfizer qualified for a performance-based grant of $250,000 from the One North Carolina Fund, which provides state assistance matched by local governments to help attract economic investment and create jobs. Companies receive no money upfront and must meet job and investment targets to obtain payment.

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Pfizer to invest $100M in Sanford gene therapy operation, add jobs ... - WRAL Tech Wire

Recommendation and review posted by Bethany Smith

By Ben Hirschler

LONDON (Reuters) - The science of gene therapy is finally delivering on its potential, and drugmakers are now hoping to produce commercially viable medicines after tiny sales for the first two such treatments in Europe.

Thanks to advances in delivering genes to targeted cells, more treatments based on fixing faulty DNA in patients are coming soon, including the first ones in the United States.

Yet the lack of sales for the two drugs already launched to treat ultra-rare diseases in Europe highlights the hurdles ahead for drugmakers in marketing new, extremely expensive products for genetic diseases.

After decades of frustrations, firms believe there are now major opportunities for gene therapy in treating inherited conditions such as haemophilia. They argue that therapies offering one-off cures for intractable diseases will save health providers large sums in the long term over conventional treatments which each patient may need for years.

In the past five years, European regulators have approved two gene therapies - the first of their kind in the world, outside China - but only three patients have so far been treated commercially.

UniQure's Glybera, for a very rare blood disorder, is now being taken off the market given lack of demand.

The future of GlaxoSmithKline's Strimvelis for ADA-SCID - or "bubble boy" disease, where sufferers are highly vulnerable to infections - is uncertain after the company decided to review and possibly sell its rare diseases unit.

Glybera, costing around $1 million per patient, has been used just once since approval in 2012. Strimvelis, at about $700,000, has seen two sales since its approval in May 2016, with two more patients due to be treated later this year.

"It's disappointing that so few patients have received gene therapy in Europe," said KPMG chief medical adviser Hilary Thomas. "It shows the business challenges and the problems faced by publicly-funded healthcare systems in dealing with a very expensive one-off treatment."

These first two therapies are for exceptionally rare conditions - GSK estimates there are only 15 new cases of ADA-SCID in Europe each year - but both drugs are expected to pave the way for bigger products.

The idea of using engineered viruses to deliver healthy genes has fuelled experiments since the 1990s. Progress was derailed by a patient death and cancer cases, but now scientists have learnt how to make viral delivery safer and more efficient.

Spark Therapeutics hopes to win U.S. approval in January 2018 for a gene therapy to cure a rare inherited form of blindness, while Novartis could get a U.S. go-ahead as early as next month for its gene-modified cell therapy against leukaemia - a variation on standard gene therapy.

At the same time, academic research is advancing by leaps and bounds, with last week's successful use of CRISPR-Cas9 gene editing to correct a defect in a human embryo pointing to more innovative therapies down the line.

Spark Chief Executive Jeffrey Marrazzo thinks there are specific reasons why Europe's first gene therapies have sold poorly, reflecting complex reimbursement systems, Glybera's patchy clinical trials record and the fact Strimvelis is given at only one clinic in Italy.

He expects Spark will do better. It plans to have treatment centers in each country to address a type of blindness affecting about 6,000 people around the world.

Marrazzo admits, however, there are many questions about how his firm should be rewarded for the $400 million it has spent developing the drug, given that healthcare systems are geared to paying for drugs monthly rather than facing a huge upfront bill.

A one-time cure, even at $1 million, could still save money over the long term by reducing the need for expensive care, in much the same way that a kidney transplant can save hundreds of thousands of dollars in dialysis costs.

But gene therapy companies - which also include Bluebird Bio, BioMarin, Sangamo and GenSight - may need new business models.

One option would be a pay-for-performance system, where governments or insurers would make payments to companies that could be halted if the drug stopped working.

"In an area like haemophilia I think that approach is going to make a ton of sense, since the budget impact there starts to get more significant," Marrazzo said.

Haemophilia, a hereditary condition affecting more than 100,000 people in markets where specialty drugmakers typically operate, promises to be the first really big commercial opportunity. It offers to free patients from regular infusions of blood-clotting factors that can cost up to $400,000 a year.

Significantly, despite its move away from ultra-rare diseases, GSK is still looking to use its gene therapy platform to develop treatments for more common diseases, including cancer and beta-thalassaemia, another inherited blood disorder.

Rivals such as Pfizer and Sanofi are also investing, and overall financing for gene and gene-modified cell therapies reached $1 billion in the first quarter of 2017, according to the Alliance of Regenerative Medicine.

Shire CEO Flemming Ornskov - who has a large conventional haemophilia business and is also chasing Biomarin and Spark in hunting a cure for the bleeding disorder - sees both the opportunities and the difficulties of gene therapy.

"Is it something that I think will take market share mid- to long-term if the data continues to be encouraging? Yes. But I think everybody will have to figure out a business model."

More here:
Gene Therapy Is Now Available, but Who Will Pay for It? - Scientific American

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Related ResearchPfizer Inc., one of the worlds premier biopharmaceutical companies, will expand its research-production facilities in Sanford, North Carolina. The company will prepare to produce new gene therapy medicines.

Governor Roy Cooper announced the company plans to invest $100 million in its research facility in Lee County, creating 40 jobs and building upon a technology first developed at the University of North Carolina at Chapel Hill.

The Pfizer expansion in Sanford will focus on gene therapy, a potentially transformational technology for patients, focused on highly specialized, one-time treatments that address the root cause of diseases caused by genetic mutation. The technology involves introducing genetic material into the body to deliver a correct copy of a gene to a patients cells to compensate for a defective or missing gene.

Pfizer is proud to further expand our presence in North Carolina, particularly as we build our leadership in gene therapy, states Lynn Bottone, Site Leader at Pfizer Sanford. We look forward to the next phase of this expansion as we build a clinical and commercial manufacturing facility.

As an incentive a performance-based grant of $250,000 from the One North Carolina Fund will help facilitate Pfizers expansion in Lee County. The One NC grant will formally be awarded to Wyeth Holdings, LLC, a wholly-owned subsidiary of Pfizer Inc.

The One NC Fund provides financial assistance to local governments to help attract economic investment and to create jobs. Companies receive no money upfront and must meet job creation and capital investment targets to qualify for payment. All One NC grants require a matching grant from local governments and any award is contingent upon that condition being met.

North Carolina is one of the few places in the country with the biotech resources to take an idea all the way from the lab to the manufacturing line, Governor Cooper said. Pfizers investment in Lee County is a prime example of how North Carolinas world-class universities and cutting-edge industries work together to move our state forward.

In 2016, the company acquired Bamboo Therapeutics, Inc., a privately held biotechnology company based in Chapel Hill focused on developing gene therapies for the potential treatment of patients with certain rare diseases related to neuromuscular conditions and those affecting the central nervous system. Pfizer also committed $4 million to support postdoctoral fellowships in North Carolina universities for training in gene therapy research.

Innovation drives economic opportunity and expansion, said North Carolina Commerce Secretary Anthony M. Copeland. Pfizers decision to expand in North Carolina proves how our investments in education pay off in new jobs and new solutions to the worlds toughest challenges.

We are excited that Carolinas research will improve lives and create jobs for North Carolinians, said Carol Folt, Chancellor of the University of North Carolina at Chapel Hill. This is a perfect example of how placing innovation at the center of our university creates new opportunities. We are proud to be a part of the technologies, expertise and infrastructure that went into Bamboo Therapeutics and helped make this manufacturing expansion in Sanford possible. Gene therapy is a strength at Carolina and we look forward to continue to help advance this industry.

The North Carolina Department of Commerce and the Economic Development Partnership of N.C. (EDPNC) were instrumental in supporting the companys investment decision. In addition to North Carolina Commerce and the Economic Partnership of North Carolina, other key partners in the project include the North Carolina General Assembly, the North Carolina Community College System, the University of North Carolina at Chapel Hill, the North Carolina Biotechnology Center, Duke Energy, Lee County, and the Sanford Area Growth Alliance.

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Pfizer Inc. Expands Biopharmaceutical Research Center in Sanford, North Carolina - Area Development Online

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VistaGen Therapeutics Inc. (NASDAQ: VTGN), a clinical-stage biopharmaceutical company focused on developing new generation medicines for depression and other central nervous system (CNS) disorders, announced today that the Company has received a Notice of Allowance from the U.S. Patent and Trademark Office (USPTO) for U.S. Patent Application No. 14/359,517 regarding proprietary methods for producing hematopoietic precursor stem cells, which are stem cells that give rise to all of the blood cells and most of the bone marrow cells in the body, with potential to impact both direct and supportive therapy for autoimmune disorders and cancer.

The breakthrough technology covered by the allowed U.S. patent was discovered and developed by distinguished stem cell researcher, Dr. Gordon Keller, Director of the UHN's McEwen Centre for Regenerative Medicine in Toronto, one of the world's leading centers for stem cell and regenerative medicine research and part of the University Health Network (UHN), Canada's largest research hospital. Dr. Keller is a co-founder of VistaGen and a member of the Company's Scientific Advisory Board. VistaGen holds an exclusive worldwide license from UHN to the stem cell technology covered by the allowed U.S. patent.

"We are pleased to report that the USPTO has allowed another important U.S. patent relating to our stem cell technology platform, stated Shawn Singh, Chief Executive Officer of VistaGen. "Because the technology under this allowed patent involves the stem cells from which all blood cells are derived, it has the potential to reach the lives of millions battling a broad range of life-threatening medical conditions, including cancer, with CAR-T cell applications and foundational technology we believe ultimately will provide approaches for producing bone marrow stem cells for bone marrow transfusions. As we continue to expand the patent portfolio of VistaStem Therapeutics, our stem cell technology-focused subsidiary, we enhance our potential opportunities for additional regenerative medicine transactions similar to our December 2016 sublicense of cardiac stem cell technology to BlueRock Therapeutics, while focusing VistaStem's internal efforts on using stem cell technology for cost-efficient small molecule drug rescue to expand our drug development pipeline."

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VistaGen Therapeutics (VTGN) Receives Notice of Allowance For Methods for Producing Blood Cells, Platelets and ... - StreetInsider.com

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August 8, 2017 by Samuel Hammond

The Wall Street Journal editorial board reported yesterday that the Health Resources and Service Administration (HRSA) regulation which sought to ban compensation for blood-forming stem cell donors has been defeated. This represents a small but significant victory for advocates of compensating organ donors a practice that remains outlawed by the National Organ Transplant Act (NOTA).

The crux of HRSAs rulemaking was a move to redefine blood-forming stem cells drawn from the bloodstream as an organ, no different from the bone marrow found within the bone, and thus under NOTAs purview. Our friends at the Institute for Justice (IJ) rightly argued for years that such a move was nonsensical and illegal. Blood and plasma are explicitly exempt from NOTAs ban on donor compensation, and as such donations of some subpart of the blood, including stem cells, should also be exempt.

The battle to kill the then-pending regulation heated up late last year, as HRSA neared its deadline to finalize the rule. The Niskanen Center formally joined IJs efforts in November, when we released a report called Bone Marrow Mismatch: How compensating bone marrow donors can end the transplant shortage and save lives. The report highlighted the enormous gap between bone marrow demand and supply under the current regime of voluntary donation, and argued against the applicability of the core ethical concerns advanced by HRSA. Our research and Hill event on the issue culminated in a listening session with HRSA officials, in which we argued that the social cost of enacting the rule was well in excess of $100 million, and thus worthy of delay for a deeper cost-benefit appraisal.

Its unclear what happened next. HRSAs hard December 18 deadline came and went, with a final rule that appeared to have been written but not formally submitted to the Federal Register. Perhaps it was the incoming administration, or the threat of litigation should the rule go through, or our research which provided a clear rationale for postponement. Regardless, the rule entered a strange purgatory, which is where it stayed until HHS formally withdrew the rule last week.

The Niskanen Center has received communications from a federal employee who believes our research was to some degree responsible for the rules ultimate repeal. That said, my research was simply part of a multi-pronged and multi-year effort to oppose the rule, led early on byIJ, the entrepreneur Doug Grant, the economist Mario Macis, and Peter Jaworski, the business ethicist and creator of DonationEthics.com.

The view of the Niskanen Center is that economic rights include the right to receive compensation for organ donations. NOTA therefore deserves a much deeper legal challenge. But in the meantime, lets celebrate the defeat of this regulation as a clear example of what it means to make small steps toward a better world.

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Compensating Bone Marrow Donors Will Close the Supply Gap and Save Lives. - Niskanen Center (press release) (blog)

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Everybody likes playing with origami and making little paper animals, but researchers in the US have taken their hobby to a freaky new level.

Scientists have developed a way of making a kind of bioactive "tissue paper" from real body organs, which is thin and flexible enough to fold into origami animals like the charming crane you see above which was probably once a kidney, liver, or perhaps a heart.

While it definitely sounds a bit (okay, a lot) on the gross side, this organ origami isn't quite as gruesome as it sounds. For starters, the team from Northwestern University aren't sourcing their tissue paper from human organs at least, not that we know of.

Instead, the researchers are picking up unwanted pig and cow offal from a local butcher, and putting those discarded off-cuts to good use because this flexible paper-like material could one day be used to heal wounds, or to help supplement hormone production in cancer patients.

Northwestern University

"This new class of biomaterials has potential for tissue engineering and regenerative medicine as well as drug discovery and therapeutics," says one of the team, materials scientist Ramille Shah.

"It's versatile and surgically friendly."

The team stumbled upon the idea for making organ-based paper after a lucky accident during their research on 3D-printed mice ovaries.

A chance spill of the hydrogel-based gelatin ink used to make the ovaries ended up pooling into a dry sheet in the bench lab, and from one strange innovation, another was born.

"When I tried to pick it up, it felt strong," says one of the researchers, Adam Jakus.

"I knew right then I could make large amounts of bioactive materials from other organs. The light bulb went on in my head. I could do this with other organs."

Turning to pig and cow organs, the researchers extracted structural proteins called the extracellular matrix from animal ovaries, uteruses, kidneys, livers, muscles, and hearts.

These proteins, which help to give organs their form, were dried and then combined with a polymer to process them into their new paper-like structure.

In other words, it's a bit like papier-mch with a touch of H. P. Lovecraft thrown in, but what's important is that the paper retains residual biochemicals from its protein-based origins, holding on to cellular properties from the specific organ it comes from.

During tests in the lab, the team was able to grow functional, hormone-secreting ovarian follicles in culture using tissue paper sourced from a cow ovary.

It might only be a lab test using animal organs, but if the same idea could be replicated with human hormone-producing tissue paper implanted under patients' skin, it could be a big step towards treating cancer patients and hormone deficiency generally.

"This could provide another option to restore normal hormone function to young cancer patients who often lose their hormone function as a result of chemotherapy and radiation," explains one of the researchers, Teresa Woodruff.

What could make the tissue paper so easy to apply for medical purposes is its malleability. It feels and folds much like ordinary paper, and can even be frozen for later use.

"Even when wet, the tissue papers maintain their mechanical properties and can be rolled, folded, cut and sutured to tissue," says Jakus.

In addition to hormone treatment applications, the team says the pliable material could augment tissue when wounds are healing, which might be able to speed up recoveries, or prevent scarring from injuries.

Of course, before we even get close to sticking origami organs inside human patients, the next step will be looking into how the paper works in animal models.

But initial signs look promising. When the team put human bone marrow stem cells on the tissue paper, all the stem cells attached and multiplied.

"That's a good sign that the paper supports human stem cell growth," says Jakus.

"It's an indicator that once we start using tissue paper in animal models it will be biocompatible."

To be clear, there's still a lot more research to be done here before we know how viable organ paper really is, but we'll never know unless we try.

And in the meantime, at least one thing's for sure.

"It is really amazing that meat and animal by-products like a kidney, liver, heart and uterus can be transformed into paper-like biomaterials that can potentially regenerate and restore function to tissues and organs," says Jakus.

"I'll never look at a steak or pork tenderloin the same way again."

The findings are reported in Advanced Functional Materials.

Read more here:
Scientists Are Making Actual Origami Out of Body Organ Tissue - ScienceAlert

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The CRISPR//Cas9 gene editing tool has quickly earned a reputation as a revolutionary technology, and its merits support the clout. This year has, in fact, seen so many CRISPR-related breakthroughs that its worthwhile to take a step back and take in all of the many accomplishments.

1. This week, circulating reports about the successful application of gene-editing human embryos in the US were confirmed by a research paper published in Nature. The researchers corrected one-cell embryo DNA to remove the MYBPC3 gene known to cause hypertrophic cardiomyopathy (HCM), a heart disease that affects 1 in 500 people.

2. This year, scientists successfully used gene editing to completely extract HIV from a living organism, with repeated success across three different animal models. In addition to the complete removal of the virus DNA, the team also prevented the progress of acute latent infection.

3. Semi-synthetic organisms were developed by breeding E.coli bacteria with an anomalous six-letter genetic code, instead of the normal four-base sequence. Additional gene editing was implemented to ensure that the new DNA molecules were not identified as an invasive presence.

4. The CRISPR method successfully targeted the command center of cancer called the hybrid fusion which leads to abnormal tumor growths. A cut-and-paste method allowed the creation of a cancer-annihilating gene that shrinks tumors in mice carrying human prostate and liver cancer cells.

5. Scientists also slowed the growth of cancerous cells, by targeting Tudor-SN, a key protein in cell division. Its expected that this technique could also slow the growth of fast-growing cells.

6. Gene editing techniques have also made superbugs kill themselves. By adding antibiotic resistant gene sequences into bacteriophage viruses, self-destructive mechanisms are triggered which protect bacteria.

7. Gene editing may even make mosquito-born diseases an extinct phenomenon. By hacking fertility genes, scientists have gained the ability to limit the spread of mosquitoes a success they credit to CRISPRs ability to make multiple genetic code changes simultaneously.

8. Using CRISPR, researchers have edited out Huntingtons disease from mice, pushing the symptomatic progression of the condition into reverse. Experts expect this promising technique to be applied to humans in the near future.

9. Outside of the medical field, CRISPR might also provide a more abundant and sustainable biofuel. By connecting several gene-editing tools, scientists engineered algae that produce twice the biofuel material as wild (or natural) counterparts.

Flickr: Sarah Fulcher

10. Very recently, the first-ever molecular recorder was developed a gene editing process that encodes a film directly into DNA code and with this ability, scientists embedded information into an E.coli genome.

11. Last but not least, and on the macro-scale, the U.S. Defense Advanced Research Projects Agency (DARPA) invested $65 million in a project called safe genes, designed to improve the accuracy and safety of CRISPR editing techniques. In addition to serving the public interest of avoiding accidental or intentional (cue ominous music) misuse, the seven research teams will remove engineered genes from environments to return them to baseline natural levels.

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11 Amazing Feats the Gene-Editing Tool CRISPR Just Made Possible - NBCNews.com

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Brain boost: Several regions across the brains of mice with a CHD8 mutation are larger (pink) than in controls.

Researchers have debuted two mouse models of autism made using the gene-editing tool CRISPR. Both strains lack one functional copy of CHD8, a gene with strong ties to autism1,2.

CRISPR allows researchers to quickly and efficiently insert specific mutations into single-cell mouse embryos. Several teams have used the method to make mouse models for other conditions, including Rett syndrome, an autism-related condition. The new mice represent the first use of the method to make models expressly for autism.

CHD8, a top autism candidate, was an obvious choice for this first foray: Almost all individuals with a harmful CHD8 mutation also have autism. They also have a characteristic syndrome that includes an enlarged head, gut problems and intellectual disability.

The two new strains of mice, along with three others made with conventional techniques, recapitulate some features seen in people with a CHD8 mutation. But they differ slightly from each other in their brain and behavioral features.

These variations may be due to differences in the mices genetic background, says Alex Nord, assistant professor of neuroscience at the University of California, Davis, who made one of the new CRISPR models.

Because the genetic background of people is also widely variable, the ability to make multiple mouse models of the same syndrome inexpensively is an advantage.

The continued accumulation of these data, models and reagents is going to be enormously important for the field, says Michael Talkowski, associate professor of neurology at Harvard University, who was not involved in making the mice.

Traditional methods for disabling a gene involve breeding mice for several generations in order to generate animals that carry the mutation in each of their cells. CRISPR, by contrast, allows researchers to alter the genome directly in a single-cell mouse embryo, speeding up the process and lowering costs substantially.

Since CRISPR/CAS9 has come out, making the mouse is no longer the longest part of the process, Nord says. CRISPR has shortened the timeline for engineering a mouse model from roughly two years to about six months, researchers say.

CRISPR also makes it possible to introduce mutations in mice that are otherwise genetically identical to controls. Researchers can tweak the gene in any way they like, inserting specific mutations rather than deleting genes. (Some studies have suggested that CRISPR can introduce unintended mutations, however.)

Nord and his colleagues made mice with a mutation that shuts down one copy of CHD8. The animals forget having seen an object before and fail to associate a location or sound with a shock features suggestive of memory and learning problems. They do not have social deficits or repetitive behaviors, both of which are hallmarks of autism. The researchers presented the mice at the 2016 International Meeting for Autism Research, and published their findings 26 June in Nature Neuroscience.

The brains of the Nord mice are larger than those of controls across several regions, including the cortex, hippocampus and amygdala. The mice with the biggest differences have the most trouble with learning and memory.

The researchers measured gene expression in brain tissue from the mice during gestation, at birth and in adulthood. They found hundreds of genes expressed at lower levels than in control mice. These include many genes that influence how genetic messages are spliced, or edited, into their final protein-coding sequences. Using a statistical model, the researchers concluded that splicing is altered in the mutant mice.

The researchers also tracked the expression of 141 genes associated with autism; they found 37 of these are expressed at unusually low levels in the mutant mice.

The other set of CHD8 mice made using CRISPR come from researchers at the Massachusetts Institute of Technology. These mice are just as likely as controls to approach and interact with another mouse. But unlike controls, they do not spend extra time with a mouse theyve never met before.

This could be a sign of social deficits, but it could also indicate a problem with memory, says co-lead investigator Guoping Feng, professor of brain and cognitive sciences.

The mice show no repetitive behaviors, but they show clear signs of anxiety, and avoid open spaces. They are also better than controls at learning how to balance on a rotating rod. This feature is seen in mice missing copies of other genes linked to autism, such as PTEN and NLGN3.

Overall, the findings in the Feng mice seem to match those in the Nord mice and most other CHD8 models, says Jill Silverman, assistant professor of psychiatry and behavioral sciences at the University of California, Davis. Silverman led the behavioral analysis of the Nord mice.

It was really reassuring, we saw all the same things as [the Feng team] with regards to autism-relevant behavior, Silverman says.

The Feng mice show atypical expression of genes that regulate the light-dark cycle and protein processing, among others. This is consistent with results in other CHD8 models, including the Nord mice.

Fengs team found that levels of genes involved in WNT signaling, a signaling pathway important for development, are significantly altered in the nucleus accumbens. This region, nestled deep in the brain, plays a role in sensing reward.

The researchers measured the strength of electrical currents in the nucleus accumbens in brain slices from the mutant mice, and found that excitatory signaling in the region is enhanced compared with controls. Dampening CHD8 levels specifically in the nucleus accumbens improves the mices motor learning, but not their anxiety. The study appeared 11 April in Cell Reports.

The findings implicate a reward brain region in autism, says Silverman. People with autism may not be finding social interactions as rewarding, so its a really interesting approach in that way, she says.

Feng and his team plan to use CRISPR to make mice that lack both copies of CHD8, but only in the brain. (Missing both copies throughout the body is lethal). This approach would enhance the mutations effects and make it easier to pin down CHD8s role in the brain, Feng says. His team also intends to make mice that carry each of the CHD8 mutations seen in people with autism.

Nord and his colleagues also plan to make mice with individual mutations linked to autism. These include a mutation in a genomic region that may control CHD8s expression. Because CRISPR mice are relatively inexpensive to make, Nord says, the researchers can take the risk that the mutation, and others like it, in fact do nothing.

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Mice made with CRISPR usher in new era of autism research - Spectrum

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