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Novel gene therapy experiment offers hope for people with certain hearing loss and dizziness disorder Science Daily In a first-of-its-kind study published in the March 1, 2017 edition of Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of Medicine showed that gene ...

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Money for research, hope for a cure: Race honors Eliza O'Neill and Sanfilippo kids The State On Saturday, Hickey and some of her genetic counseling peers joined dozens of others at a 5K race fundraiser to increase awareness of the rare, degenerative disease and raise money for research into an effective treatment or cure. There's a lot of ... They isolated themselves for 726 days to give their daughter a chance at lifeDurham Herald Sun all 4 news articles »

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Money for research, hope for a cure: Race honors Eliza O'Neill and Sanfilippo kids - The State

Albany, NY (SBWIRE) 03/24/2017 Global Cancer Gene Therapy Market: Overview

Cancer results from the multiple mutations in a single cell that makes it to proliferate out of control. Cancer cells invade new cellular territories, have a high metabolic rate, and an altered shape. The various methods to treat cancers are surgery, radiation, and chemotherapy. When the aforementioned therapies fail to achieve desired results, gene therapy is leveraged. Gene therapy involves the insertion of a functional gene, also known as therapeutic DNA, into the cells of a cancer patient to rectify the metabolism, to change or repair an acquired genetic abnormality, and to provide a new function to a cell. The two main types of gene therapy are germinal and somatic.

Global Cancer Gene Therapy Market: Key Trends

Majorly promoting the global cancer gene therapy market is the swift pace of technological breakthroughs and the growing popularity of emerging genomic technologies like next-generation sequencing and high-density DNA microarrays. Additionally, the government support for these technologies is also slated to stoke growth in the near future. The Center for Disease Control and Prevention (CDC), for example, supports screening programs for breast cancer control and cervical and colorectal cancers among low-income group women sans health insurance in the U.S.

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Besides, the rising occurrence of cancer worldwide is will substantially drive up demand for gene therapy in the years ahead. According to WHO, cases of cancer will likely touch US$15 million mark by the end of the decade.

Global Cancer Gene Therapy Market: Market Potential

At present, most of the cancer gene therapy products are in being tested. The market is predicted to grow once the trials bear results. An US pharmaceutical company named Kite Pharma, for example, recently revealed the results from the initial six months of the trial of a new gene therapy treatment called CAR-T cell therapy. It helped up patients own immune cells and has eliminated the disease from one third of terminal patients. Around 36 per cent of the 101 patients on the trial were still in complete remission at six months, and eight in 10 saw their cancer reduced by at least half during the study.

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Groundbreaking therapies such as this is slated to revolutionize the global cancer gene therapy market.

At present, adenoviral vector is a popular oncology application because of its effective nuclear mechanism and low pathogenicity. Adenoviral vectors are leveraged in gene replacement approaches, suicide gene, gene-based immunotherapy, and syndicate gene with chemotherapy. Retroviral vector-mediated gene transfer also plays a key role in the gene therapy industry for it brings about the crucial benefit of changing the single stranded RNA genome into a double stranded DNA molecule, which eventually integrates into the target cell genome.

Global Cancer Gene Therapy Market: Regional Outlook

North America and Europe are key regions in the global cancer gene therapy market on account of a massive elderly population and significant technological progress in the region. In the years ahead, however, the market is Asia Pacific is forecasted to surge on account of supportive government initiatives, improving economy, bettering healthcare infrastructure, and growing thrust on research and development.

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Global Cancer Gene Therapy Market: Competitive Analysis

Some of the prominent players in the global cancer gene therapy market are Altor Bioscience Corporation, SiBiono., Shanghai Sunway Biotech company Limited, BioCancell, GlobeImmune, Inc.,Aduro Biotech, OncoGeneX, New Link Genetics., ZioPharm Oncology, and GENELUX. At present the market is led by small pioneering biotech firms who may eventually collaborate with prominent players for clinical development or commercialization of products.

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Cancer Gene Therapy Market Deep Research Study with Forecast by 2025 - MilTech

March 23, 2017 This image shows stereocilia bundles on inner hair cells from whirler mice after whirlin gene therapy. These hair-like protrusions allow sensory hair cells to detect sound and motion. The whirler mutant mouse has very short stereocilia bundles. After whirlin gene therapy, the stereocilia bundles are increased to normal length (red) and whirlin expression is restored (green). Credit: Johns Hopkins Medicine

In a first-of-its-kind study published in the March 1, 2017 edition of Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of Medicine showed that gene therapy was able to restore balance and hearing in genetically modified mice that mimic Usher Syndrome, a genetic condition in humans characterized by partial or total hearing loss, dizziness, and vision loss that worsens over time. The hearing loss and dizziness is caused by abnormalities of the inner ear.

Dizziness and hearing loss are among the most common disabilities affecting humans and can be severe and debilitating. According to the National Health and Nutrition Examination Survey, more than 35% of U.S. adults aged 40 years and older have some degree of balance dysfunction, a major cause of falls in the elderly. According to the Centers for Disease Control, approximately one in three people in the United States between the ages of 65 and 74 has hearing loss, and nearly half of those older than 75 have difficulty hearing. Men are more likely to experience hearing loss than women.

Primary investigator Wade Chien, M.D., a neurootologist and associate professor with the Johns Hopkins Otolaryngology-Head and Neck Surgery team who also practices at the Johns Hopkins Healthcare and Surgery Center in Suburban Hospital in Bethesda, MD., and his team administered gene therapy to the inner ears of genetically modified mice carrying a mutation in a gene which is associated Usher syndrome. These mutant mice are deaf and have significant balance problems from birth. After gene therapy administration, the balance function of the mutant mice was completely restored. In addition, these mutant also had improvement in hearing. This study was one of the first to show that gene therapy can be used to improve hearing and balance functions in a mouse model of hereditary hearing loss. This study was funded by the NIDCD intramural research program.

"Inner ear gene therapy offers tremendous potential as a new way to help patients with hearing loss and dizziness," Chien said.

While the positive results are striking the researchers caution that the results are preliminary and will require additional research in humans to demonstrate fully their utility in treating humans. However, they are optimistic that their data indicate that inner ear gene therapy hold promise for treating a variety of human inherited vestibular and hearing disorders, including Usher syndrome.

Explore further: Number of people in US with hearing loss expected to nearly double in coming decades

More information: Kevin Isgrig et al. Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome, Molecular Therapy (2017). DOI: 10.1016/j.ymthe.2017.01.007

In a study published online by JAMA Otolaryngology-Head & Neck Surgery, Adele M. Goman, Ph.D., of Johns Hopkins University, Baltimore, Md., and colleagues used U.S. population projection estimates with current prevalence ...

In the summer of 2015, a team at Boston Children's Hospital and Harvard Medical School reported restoring rudimentary hearing in genetically deaf mice using gene therapy. Now the Boston Children's research team reports restoring ...

In a study published online by JAMA Otolaryngology-Head & Neck Surgery, Kathleen M. Schieffer, B.S., of the Pennsylvania State University College of Medicine, Hershey, Pa., and colleagues examined the association between ...

Severe hearing loss is the third most prevalent chronic condition in older Americans and more than 15% of people in their 30s are also affected. The condition leads to communication problems, social isolation, depression, ...

A new gene therapy approach can reverse hearing loss caused by a genetic defect in a mouse model of congenital deafness, according to a preclinical study published by Cell Press in the July 26 issue of the journal Neuron. ...

Using a novel form of gene therapy, scientists from Harvard Medical School and the Massachusetts General Hospital have managed to restore partial hearing and balance in mice born with a genetic condition that affects both.

Monash University researchers have discovered the mechanism underlying the fainting disorder, Postural Orthostatic Tachycardia Syndrome (POTS), the condition famously affecting the former lead singer of The Wiggles.

A person carrying variants of two particular genes could be almost three times more likely to develop multiple sclerosis, according to the latest findings from scientists at The University of Texas Medical Branch at Galveston ...

Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease ...

In a first-of-its-kind study published in the March 1, 2017 edition of Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of ...

An international team of researchers from institutions around the world, including Baylor College of Medicine, has discovered that mutations of the OTUD6B gene result in a spectrum of physical and intellectual deficits. This ...

Researchers at Baylor College of Medicine, Texas Children's Hospital and Rice University have uncovered a gene mutation that may provide answers to unexplained female infertility. The study appears in Scientific Reports, ...

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Novel gene therapy experiment offers hope for people with certain hearing loss and dizziness disorder - Medical Xpress

Thuy Truong thought her aching back was just a pulled muscle from working out. But then came a high fever that wouldn't go away during a visit to Vietnam. When a friend insisted Truong, 30, go to an emergency room, doctors told her the last thing she expected to hear: She had lung cancer. Back in Los Angeles, Truong learned the cancer was at stage 4 and she had about eight months to live.

"My whole world was flipped upside down," says Truong, who had been splitting her time between the San Francisco Bay Area and Asia for a new project after selling her startup. "I've been a successful entrepreneur, but I'm not married. I don't have kids yet. [The diagnosis] was devastating."

Doctors at the University of Southern California took a blood sample for genetic testing. The "liquid biopsy" was able to detect tumor cells in her blood, sparing her the risky procedure of collecting cells in her lungs.

Genetic sequencing allowed the lab to isolate the mutation that caused her cancer to produce too much of the EGFR (epidermal growth factor receptor) protein, triggering cancer cells to grow and proliferate. Fortunately, her type of mutation responds to EGFR-targeting drugs, such as Tarceva or Iressa, slowing tumor growth.

Personalized medicine uses genetic information to design treatments targeted to individual patients.

Unlike chemotherapy, which blasts all fast-growing cells in its wake, targeted treatments go after specific molecules. That makes them more effective at fighting particular types of cancers, including breast, colorectal and lung cancers. Now the approach is being expanded to fight an even broader range of cancers. It's all part of a new wave in health care called personalized, or precision, medicine.

"This is the future of medicine," says Dr. Massimo Cristofanilli, associate director for translational research and precision medicine at Northwestern University. "There is no turning back. The technology is available and there are already so many targeted therapies."

Most medical treatments have been designed for the average patient, leading to a one-size-fits-all approach. But with vast amounts of data at their disposal, researchers now can analyze information about our genes, our family histories and other health conditions to better understand which types of treatments work best for which segments of the population.

This is a big deal. But it requires the know-how of geneticists, biologists, experts in artificial intelligence and computer scientists who understand big-data analytics. Several startups have already begun this work.

Deep Genomics, founded by researchers at the University of Toronto, uses AI to predict how genetic mutations will change our cells and the impact those changes will have on the human body. Epinomics, co-founded by scientists and physicians from Stanford University, is building a map of what turns our genes on and off, giving physicians a guide they could use to craft personalized therapies. And Vitagene, a small San Francisco startup, provides personalized advice on nutrition and wellness based on your DNA.

Dr. Massimo Cristofanilli

Just like Facebook learns to automatically recognize Aunt Martha in your family photos, Deep Genomics finds and categorizes patterns in genetic data. Once it's found those patterns, the company's deep learning system can infer if and how changes to your DNA affect your body.

That's a big step forward compared with current genetic tests. Most can only give a probability of, say, getting breast cancer based on data from an entire population. Other tests can't even tell you if the genetic changes they've detected mean anything.

The work is personal for Brendan Frey, CEO and co-founder of Deep Genomics and a professor at the University of Toronto. Fourteen years ago, he and his wife discovered their unborn baby had a genetic condition.

"We knew there was a genetic problem, but our counselor couldn't tell us if it was serious or if it was going to turn out to be nothing," Frey says. "We were plunged into this very difficult, emotional situation."

The experience made Frey want to bridge the divide between identifying genetic anomalies and understanding what they mean.

Deep learning or machine learning -- when computers teach themselves as they see more data -- can also help doctors know which drugs will most effectively treat a patient's illness and whether that person is more likely to experience side effects.

It can also help predict how cancer cells will mutate. And that can help drug companies come up with new treatments as tumor cells change and patients no longer respond to the drugs that worked.

That could help turn a disease like cancer into a manageable chronic ailment, says Cristofanilli.

Where Deep Genomics analyzes patterns in genetic data to predict when mutations will make you sick, Epinomics looks at epigenomics, or the study of what turns our genes on and off.

The company describes it like this: If your genome, which shows what genes we have, is the hardware of our bodies, then the epigenome is its software programming. Epinomics aims to decode that programming.

Every cell in the body carries the same genetic code. But cells in the heart, brain, bone and skin function differently based on this programming. It happens because chemical markers attach to DNA to activate or silence genes. These markers, known as the epigenome, vary from one cell type to another and are affected by both nature (inheritance) and nurture, which can include the air we breathe and the food we eat.

Researchers think a disruption to the epigenome can cause illnesses such as Alzheimer's disease, diabetes or cancer. Understanding it could give physicians a guide to the best options for each patient, like having a GPS for treatments at the molecular level.

"We are focusing on what is happening at the programming level of each cell," says Epinomics co-founder Fergus Chan. "Once we understand how genes are being turned on and off, we'll be able to better predict which treatments will work or whether changes to lifestyle will have an impact on health."

When Vitagene co-founder and CEO Mehdi Maghsoodnia asked a doctor what vitamins he should be taking, he was handed a bottle of pills and told to hope for the best.

Fergus Chan

That was the beginning of Vitagene, which uses genetic data and other health information culled from a detailed questionnaire to deliver a personalized nutritional supplement plan that lists which vitamins you need and in what doses, as well as what to avoid.

Maghsoodnia offers an alternative to the one-size-fits-all $27 billion US dietary supplement industry. Customers pay $99 to have their DNA tested and blood analyzed. And for $69 a month, Vitagene will package and ship supplements in dosages tailored to your individual needs.

The Food and Drug Administration estimates there are more than 85,000 dietary supplements on the US market, most of which are unregulated. Nearly all are "promising everything from anti-aging to weight loss, and no science behind it to tell you what works for you," says Maghsoodnia. "We help filter through the noise."

Vitagene's algorithm has been tested on patients who've had bariatric surgery for weight loss, which often leaves them deprived of key nutrients. Vitagene helped develop a supplement regimen to get these patients the nutrition they need after surgery.

Precision medicine is in its early days.

This is especially true for psychiatry and its exploration of how the brain responds to the environment, stress and genetic disorders. Now several companies are selling tests to help psychiatrists select drug treatments by looking at patients' DNA mutations and their metabolizing rate.

See more from CNET Magazine.

But critics caution that these genetic tests may be overselling their capabilities.

"Precision medicine has been very promising in oncology," says Jose de Leon, a professor of psychiatry at the University of Kentucky who specializes in psychopharmacology. "But we know a lot more about cancer and how it works. In psychiatry, it's much harder because we don't know enough about how the brain works."

Yes, precision medicine holds enormous promise.

Even so, Northwestern's Cristofanilli cautions clinicians to stay grounded in reality. "It can be difficult to understand where reality becomes imagination," he says. "We want to make sure we are protecting patients from claims that we may not deliver."

For her part, Truong is grateful to benefit from the work that's already been done. "I'm an engineer," she says.

"I don't believe in miracles. I believe in science."

This story appears in the spring 2017 edition of CNET Magazine. For other magazine stories, click here.

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Gene therapy: What personalized medicine means for you - CNET - CNET

Leon Csernohlavek

In September 2015, Elizabeth Parrish flew from Seattle to Colombia to receive an experimental treatment.

She had spent more than two years studying literature, talking to experts, and had decided to undergo gene therapy a treatment for genetic disorders that adds genes into cells to replace those that are faulty or absent. She ordered the therapeutic cells months in advance and arranged for a technician to administer the therapy in a clean room within a short distance of a hospital, in case she suffered a bad immune response. The gene therapy was shipped in a closed container and administered via an IV over approximately five hours. Parrish remained under observation for a few days and then flew home.

Was I anxious afterwards? Yes, Parrish says. I was definitely looking for indications that anything was wrong with my body. I was acutely aware of every ache and pain. She had become the first person to subject herself to gene therapy for the disease that affected her. Her condition? Ageing.

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In January 2013, Liz Parrish son was diagnosed with Type 1 diabetes. Every few days, he would have some devastatingly low blood sugar levels, Parrish says. I was continually reminded that we as humans spend a lot of time trying to pretend as if our death is not eminent. She remembers being told that her son was lucky because diabetes was treatable. I was really hit hard by the time I spent in children's' hospitals, Parrish says. She had read about the promises of modern medicine, in particular, gene therapy. I began trying to figure out why nothing was translating to hospitals where kids were dying.

Parrish began attending medical conferences on her own. I found this conference in Cambridge that looked to be about genetics, Parrish says. It turned out to be about longevity. There she learned how gene modifications had already extended the normal lifespan of worms up to 11 times and of mice by five times. It made me realise that if ageing was a disease and everyone was suffering from an illness, the fastest way to fund this research would be to essentially educate the world that was the case and get them to put money behind finding a cure, Parrish says.

At that point, Parrish, who up until then had been working part-time for software companies, started her own company, BioViva, to expedite therapeutics and give access to patients. Why did so many patients have to wait, suffer and die? Parrish asks. We became so risk adverse that patients die waiting for treatment. We have to change that drastically. We have millions of terminally ill patients on the planet right now. These patients should have access to the most promising therapeutics that don't have a myriad of off-target effects. There is no artificial intelligence or meta analysis of these therapies that is going to replace what happens in the human body. And we let people die because we're so concerned that a therapy might kill them. This is lawyering at its absolute worst.

Parrish then made another decision: she was going to try the first therapy on herself. I believed it was the most responsible and ethical thing to do. I believed the company should take its own medicine first before moving onto patients.

Parrish tried two therapies. One was a myostatin inhibitor, a drug designed to increase muscle mass, and the second was telomerase therapy, which lengthens the telomeres, a part of the chromosomes that protect genetic material from damage and allows the replication of DNA. Lengthening the telomeres can, at least in theory, extend cellular lifespan and make cells more resilient to damage.

The telomerase therapy had reversed ageing and extended lifespan in mice, Parrish says. I assumed this was the most promising therapy ever, and it was just sitting in research and wasn't moving forward as a viable option due to what appeared to be patenting issues and a lot of academics sitting on the fence bickering. We will never know unless we get it in humans. It's almost a moot point to try to continue to argue whether it works or not if we never use it. Its just like lemmings walking off the cliff, waiting for someone else to solve the problems.

A few weeks after the treatment, Parrish undertook follow-up exams, conducted by independent third parties. Her telomeres in her white blood cells had lengthened by more than 600 base pairs which, according to Parrish, implies they had extended by the equivalent of 20 years. A full-body MRI imaging revealed an increase in muscle mass and reduction in intramuscular fat. Other tests indicate Parrish now has improved insulin sensitivity and reduced inflammation levels.

The company was built essentially to prove these therapies work or not, Parrish says. Remember BioViva is not a research organisation. We are taking things like gene therapies and using them like technology. We would like to create an open market where people have access to acquiring these technologies, much like you would acquire a cellphone or a computer.

Further tests are being conducted at George Churchs lab in Harvard. Parrish and her team are currently working with other hospital clinics around the world to conduct more safety and feasibility studies in human subjects. I had already put things into perspective that without medicine, my son would be dead and he really was the meaning of my life, Parrish says. I was a person who quite honestly felt I had not really contributed that much to society and this was my opportunity to do so.

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Ageing is a disease. Gene therapy could be the 'cure' - Wired.co.uk

Testing the efficacy of new gene therapies more efficiently ... Science Daily Using a new cellular model, innovative gene therapy approaches for the hereditary immunodeficiency Chronic Granulomatous Disease can be tested faster and ... and more »

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Testing the efficacy of new gene therapies more efficiently ... - Science Daily

Clara suffers from rare, fatal genetic disorder

The race to find a cure for a rare genetic disease has become a Hoover family's mission as they try to save their little girl. "A Cure for Clara," may come from of all places Auburn University's College of Veterinary Medicine.

Everything appeared normal when Baby Clara came into the world. By 14 months though, she was lagging behind in development. "Our first red flag, she wasn't walking," explains her mom Jenny Bragg. Then the heartbreaking diagnosis came last August. Clara had GM1 gangliosidosis which is an inherited disorder. It destroys nerve cells.

"She was terminal; they said there was nothing they could do for her and we should go home and enjoy our time with her," recalls Bragg with tears in her eyes. She and her husband scoured the internet looking for something, any hope.

That lead them to Auburn University and groundbreaking research at the College of Veterinary Medicine. GM1 had been cured in cats and the researchers were preparing for human clinical trials. The gene therapy involves a single IV injection.

A research cat named Cinnamon who was treated is now seven years old. Others have also been cured. "They could live a normal life span. Showing this treatment works in animals is the first step to see if it's applicable to humans," explains Auburn Researcher and Professor Doug Martin, Ph.D.

The remarkable results hold promise for curing other fatal diseases. "If we can find the gene that causes Huntington's disease, Lou Gehrig's disease, the same basic technique and approach can be used," says Martin.

Human trials are set for six children including Clara if she stays healthy in November at the National Institutes of Health in Bethesda, Maryland. "I do have apprehension . on the other hand it's our only shot saving her life," says Jenny Bragg.

To make sure those human trials happen another $400,000 needs to be raised. A special fundraiser is set for Saturday, April 8th at the Redmont Hotel: Clara's Birthday Bash.

For more information go to:

ACureforClara.com

All the proceeds go to the Cure GM1 Foundation.

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A Cure for Clara: Gene therapy developed at Auburn University set for human trials - Alabama's News Leader

March 20, 2017 New trial for blindness rewrites the genetic code. Credit: Shutterstock

Researchers have started a new gene therapy clinical trial to treat X-linked retinitis pigmentosa (XLRP), the most common cause of blindness in young people.

Retinitis pigmentosa is currently untreatable and leads to a slow and irreversible loss of vision.

The trial is being run by Nightstarx Ltd (Nightstar), a biopharmaceutical spinout company of Oxford developing gene therapies for inherited retinal diseases, and researchers from the University of Oxford. On 16 March 2017, a 29 year old British man became the first patient with X-linked retinitis pigmentosa to undergo gene therapy. The operation took place at the Oxford Eye Hospital, part of the Oxford University Hospitals NHS Foundation Trust.

Gene therapy uses a virus to insert the correct copy of a defective gene into cells, and has shown promise for treating genetic causes of blindness. Unfortunately, the gene involved with retinitis pigmentosa, RPGR, is highly unstable, making gene therapy particularly challenging. The RPGR gene's unusual genetic code has made it very difficult to work with in the laboratory.

However, a research team led by Professor Robert MacLaren from the University of Oxford has reprogrammed the genetic code of RPGR to make it more stable, but in a way that does not affect its function. This has allowed the gene to be delivered reliably by a viral vector into retinal cells.

The current trial is the first in the world to test a treatment for retinitis pigmentosa caused by RPGR.

Robert MacLaren, Professor of Ophthalmology at the University of Oxford, who is leading the trial said: "The effect of RPGR-related disease on families with retinitis pigmentosa is devastating and we have spent many years working out how to develop this gene therapy. Changing the genetic code is always undertaken with great caution, but the new sequence we are using has proven to be highly effective in our laboratory studies.

"The genetic code for all life on Earth is made up of four letters G, T, A and C. In RPGR, however, half of the gene comprises only two letters A and G. This makes the gene very unstable and prone to mutations, making it a lead cause of blindness in patients with retinitis pigmentosa. RPGR is vital for the light sensitive cells at the back of the eye."

The trial has started at the Oxford University Hospitals NHS Foundation Trust and is sponsored by Nightstar, a University of Oxford spin-out company. It is supported by the NIHR Biomedical Research Centre at the Oxford University Hospitals NHS Foundation Trust. Up to 30 patients will be enrolled.

David Fellows, Chief Executive Officer of Nightstar remarked: "We are delighted to report the advancement of this exciting gene therapy program into patients. If successful, this gene therapy has the potential to transform the lives of many patients (and their families) around the world."

Dr Aniz Girach, Chief Medical Officer of Nightstar commented: "The current trial is an open-label dose-escalation study designed to enrol at least 24 patients who will receive a single subretinal injection of the RPGR gene therapy. The primary goal of the study is to assess safety and tolerability of this gene therapy over a 12 month period."

Explore further: Mutations in CWC27 result in a spectrum of developmental conditions

An international team of researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. ...

Silencing a gene called Nrl in mice prevents the loss of cells from degenerative diseases of the retina, according to a new study. The findings could lead to novel therapies for preventing vision loss from human diseases ...

Preceyes B.V., a spin-off of Eindhoven University of Technology, and Nightstar (UK) have entered into a collaboration for the development of a high-precision drug delivery technology in the eye. Nightstar will use the Preceyes ...

Using a new technology for repairing disease genesthe much-talked-about CRISPR/Cas9 gene editingUniversity of Iowa researchers working together with Columbia University Medical Center ophthalmologists have corrected ...

Researchers at UCL Institute of Ophthalmology and Moorfields Eye Hospital with funding from Fight for Sight, in collaboration with a team from Baylor College of Medicine in the USA, have discovered a new retinitis pigmentosa ...

Researchers at Ohio State University Medical Center and Nationwide Children's Hospital have developed a viral vector designed to deliver a gene into the eyes of people born with an inherited, progressive form of blindness ...

Like almost all light-sensitive living beings, human beings follow biological rhythms set on a period of about 24 hours. The circadian clock (from Latin "circa" and "dies", which means "about a day") therefore describes the ...

The majority of genes associated with nephrotic syndrome (NS) in humans also play pivotal roles in Drosophila renal function, a conservation of function across species that validates transgenic flies as ideal pre-clinical ...

Britain's Newcastle University says its scientists have received a license to create babies using DNA from three people to prevent women from passing on potentially fatal genetic diseases to their childrenthe first time ...

Columbia University Medical Center (CUMC) researchers have discovered a common genetic variant that greatly impacts normal brain aging, starting at around age 65, and may modify the risk for neurodegenerative diseases. The ...

Studies of autoimmune and inflammatory diseases have identified hundreds of genetic regions thought to be associated with these conditions. At the same time, studies of expression quantitative trait loci (eQTLs) have revealed ...

Genetic variation in the non-coding DNA could give rise to language impairments in children and other neurodevelopmental disorders including schizophrenia, autism, and bipolar disorder, scientists from the Max Planck Institute ...

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New trial for blindness rewrites the genetic code - Medical Xpress

CHICAGO, IL--(Marketwired - March 17, 2017) - The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Association (CMTA) today announced a research grant totaling $119,999 to Kleopas Kleopa, M.D., for a study on the effectiveness of a gene therapy approach in the second most common form of Charcot-Marie-Tooth disease (CMT). The grant is one of 29 new MDA grants totaling more than $7 million.

MDA and the CMTA are co-funding the grant under a partnership formed in 2016 that aims to advance CMT research, therapy development and clinical care, and increase understanding about the disease by improving education for kids and adults affected by CMT, medical professionals and the public.

"MDA is pleased to collaborate with the CMTA to fund this exciting research," MDA Scientific Program Officer Amanda Haidet-Phillips said. "Working together allows us to have a greater impact as we pursue our common goals to help individuals and families with CMT."

Kleopa is a professor and senior consulting neurologist at the Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, in Nicosia, Cyprus. The two-year grant, which became effective Feb. 1, 2017, will fund research on whether gene therapy treatment after disease onset leads to functional improvements in CMT1X.

With previous MDA support, Kleopa and his colleagues pioneered a gene therapy approach to treat CMT1X, showing that a single injection of the gene that is mutated in the disease was associated with production of normal protein in nerves and improvement of peripheral nerve health and motor performance.

Kleopa's new work will advance and expand on this approach as his team examines whether repeated injections lead to increased protein levels, and whether treatment at later stages of the disease leads to improvements similar to those seen for treatment in the early stages.

CMTA CEO Gilles Bouchard said, "Partnerships are at the core of the CMTA's STAR (Strategy to Accelerate Research) approach to finding treatments for various types of CMT, so we are very pleased to announce today the first research project jointly funded with MDA."

CMT is one of the neuromuscular diseases MDA fights as an umbrella organization with a big-picture perspective on finding treatments and cures for kids and adults whose weakening physical strength and loss of mobility make the most basic daily activities extraordinarily challenging.

CMT is one of the most common inherited neurological disorders, affecting approximately one in 2,500 people in the United States. It comprises a group of disorders caused by mutations in genes that affect the normal function of peripheral nerves -- the long nerves that extend to the feet and hands. Degeneration of motor nerves results in muscle weakness and atrophy in the arms, legs, hands or feet, and the degeneration of sensory nerves results in a reduced ability to feel heat, cold and pain. Onset of symptoms most often occurs in adolescence or early adulthood, though the disease can also present in later years. There are many forms of CMT, and the severity of symptoms varies widely among individuals. There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices and orthopedic surgery can help people cope with the disabling symptoms of the disease.

MDA has funded more than $36 million in CMT research since 1950. Including this most recent award, it is currently funding 16 CMT grants totaling more than $4.3 million. The CMTA funds and promotes targeted activities in its STAR research network with the aim of advancing therapies via alliance partnerships, with 40 current research projects and a funding total of just over $5 million over the last three years.

The MDA and CMTA Boards of Directors approved the grant after careful analysis and deliberation by MDA's Research Advisory Committee and the CMTA's STAR Advisory Board, peer review processes overseen by leading clinicians and scientists in volunteer roles. This year, MDA is funding more than 150 research projects worldwide.

About MDA

MDA is leading the fight to free individuals -- and the families who love them -- from the harm of muscular dystrophy, ALS and related muscle-debilitating diseases that take away physical strength, independence and life. We use our collective strength to help kids and adults live longer and grow stronger by finding research breakthroughs across diseases, caring for individuals from day one and empowering families with services and support in hometowns across America. Learn how you can fund cures, find care and champion the cause at mda.org.

About CMTA

The Charcot-Marie-Tooth Association (CMTA) is a registered 501c3 dedicated to serving an international patient community that suffers from rare and disabling neuropathies of genetic origin (www.cmtausa.org). The CMTA directly engages its STAR scientific and clinical research network in the identification, validation and clinical development of therapies for the different Charcot-Marie-Tooth disorders. The CMTA has focused solely on promoting the education, management and treatment of patients with CMT disorders since 1983.

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MDA and CMTA Fund Grant to Study Gene Therapy in Charcot ... - Marketwired (press release)

A natural system for silencing genes that appears to be a way the bodys genetic material defends itself from unwanted changes is helping develop resistant crops but has not yet translated into many clinical therapies, said a 2006 Nobel Prize for Medicine recipient.

Dr. Andrew Fire, of Stanford University, was the first G. Lombard Kelly Lecturer on Thursday at the Medical College of Georgia at Augusta University. He shared the 2006 Nobel Prizein Physiology or Medicine for discovering the mechanism of RNA interference. Short pieces of double-stranded RNA (molecules that transmit genetic material) coded to a particular gene can block that gene from creating a protein, silencing that gene.

Fire first published on RNA interference in 1998, and in the years since then, RNA interference has attracted a lot of attention from both research and clinical standpoints from researchers who want to use it to target particular genes. The system, which might be a way for cells to defend against things such as viruses that attempt to assert themselves into the genome the total genetic material could also be one of the reasons why many early gene therapy trials failed.

What researchers hoped were very intelligent, scientific ways of manipulating these systems turned out to be manipulations that were recognized by the organisms as often unwanted information trying to make itself heard, Fire said. The organisms then responded to that. And those mechanisms are very interesting and exciting and one of those mechanisms is RNA interference.

Fires work was in nematode worms and it turns out that it it is much more difficult to get RNA into mammalian or human cells because it gets degraded in the body.

Its been critical to do any of those applications to develop ways of encapsulating and protecting the RNA in order to get a biological effect, he said.

While his lab has not done that work, others have made impressive progress in achieving that, Fire said. For instance, one company is in Phase III clinical trials using a RNA interference drug to combat defective amyloid protein production in the liver that causes fibril tangles to form in organs, where even blocking a significant percentage has a big clinical effect. Such applications might be more realistic for therapies than say something such as cancer, Fire said.

In some of those cases a modest effect can be quite beneficial, he said. That is something that is challenging with cancer because if you have a modest effect on cancer, generally the cancer just evolves to match that.

RNA interference might be useful for more precisely characterizing what genes are active in a tumor, for instance, and points toward ways to more precisely attack it, Fire said. It could also be helpful in moving toward more personalized medicine, he said.

In agriculture, however, RNA interference is proving to be more successful in creating genetically modified organisms that, for instance, could be more resistant to pathogens or extreme conditions, Fire said. That work predates the discovery of the precise mechanisms of RNA interference, he said, but it is still a useful tool for helping to create those organisms.

Some of those strains or species will be useful for mitigating what are really substantial problems in crops, in mitigating hunger, Fire said. So there is a benefit to this in agriculture.

Reach Tom Corwin at (706) 823-3213or tom.corwin@augustachronicle.com.

Original post:
Nobel Prize winner discusses gene therapy at AU - The Augusta Chronicle

After nearly two years of debate about its possible benefits and risks, the gene editing technique is now here to stay.

An article in the December 27, 2015 edition of the Sunday Observer told of the first recorded use of the inexpensive CASPR-Cas9 gene editing technology to cut and splice out bad genes and replace them with healthy genes.

INHERITED DISEASE

A gene is a unit of heredity that is passed down from parent to child, and which carries characteristics that become apparent in the child. Each cell of the human body has around 25,000 genes, and each of those genes carry information that determines the individual traits or features of the person. So there is a gene for eye colour, hair colour, skin colour, and so on.

However, when some genes are defective or they undergo changes or mutation, illnesses can occur. Illnesses may also occur when there are missing genes which should have played a particular role. Some of the problems with genes may also be inherited from a parent.

One such illness well known to us in Jamaica is sickle cell disease. This is a severe hereditary disease in which the haemoglobin protein that is present in red blood cells to carry oxygen around the body is mutated and abnormal. Red blood cells are customarily round and circular in shape to flow smoothly through our blood vessels, but when oxygen levels are low in the bloodstream, the abnormal haemoglobin that is present in people with sickle cell disease cause the red blood cells to bend into a sickle crescent shape, making it difficult for them to flow through the tiny blood vessels of the body, and consequently may cause severe joint pains and other complications.

GENE THERAPY

The concept behind gene therapy is to use the technology of genetic engineering to replace abnormal genes with healthy ones.

Whilst this concept has been around for 30 years, the process became much more accessible with the development of the inexpensive CASPR-Cas9 gene editing technology around two years ago.

In April 2015, scientists in China were able to use the technology to splice out bad genes that were present in human embryonic stem cells and replace them with healthy ones. The stem cells, however, were never implanted into women at the time for their development into humans.

In December 2015, a speaker at the annual symposium of the American Society of Hematology described possible work in which an infant with sickle cell disease would have his or her blood stem cells edited to repair the haemoglobin gene, thereby preventing the formation of blood cells that would have caused sickling. The specific work would involve harvesting the blood stem cells of the diseased infant, editing them outside the body with a normal DNA sequence, then returning them to the infant in a bone marrow transplant.

ETHICAL CONCERNS

As this technique involved editing the haemoglobin gene within the somatic stem cell rather than in the embryonic stem cell, this choice was deemed by many to be the more ethically acceptable approach. Many people are very concerned that the gene editing technique may be used to make long-lasting hereditable changes at the embryo stage or on germ cells (human sperm or eggs), and some find this unacceptable.

This notwithstanding, in February 2016, the United Kingdom Fertilisation and Embryology Authority, who are the UK regulators on fertility matters, granted permission for scientists in London to edit the genomes (the complete set of genetic instructions, which includes all genes) of human embryos for research purposes. The developmental biologists were allowed to use the gene editing technique in healthy embryos to alter genes that are active within the first few days after fertilisation of the egg.

The approved research would utilise healthy human embryos that had been left over from in vitro fertilisation procedures performed in fertility clinics. However, the caveat was that the researchers should stop the research after seven days of study, and the researched embryos destroyed. The study would illuminate how the modification of genes could assist in developing treatments for infertility.

MOST RECENT SUCCESS

A report in the most recent edition of the New England Journal of Medicine informed that a teenage boy with sickle cell disease appeared to have been cured using the gene therapy technique. The treatment had stopped the painful symptoms of the disease, and the teenager was doing well.

Success stories such as this are normally the first step in efforts to reproduce the benefits obtained in individual cases by conducting clinical trials of the treatment on large groups of affected people. Hopefully we will hear of such studies and their outcomes in the near future.

Until preliminary results are verified, however, scepticism will exist regarding whether the positive results obtained in one person will be translated to many more people. Time will tell.

Derrick Aarons MD, PhD is a consultant bioethicist/family physician, a specialist in ethical issues in medicine, the life sciences and research, and is the Ethicist at the Caribbean Public Health Agency CARPHA. (The views expressed here are not written on behalf of CARPHA)

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Treating sickle cell disease with gene therapy - Jamaica Observer

JaCeon Golden has only ever known the inside of hospitals. But the treatment hes receiving may have implications far beyond his as-yet isolated life.

Round-faced and big-eyed, with a perpetual pout that belies his sunny nature, he looks as healthy as any other 5-month-old. But JaCeon was born without a functioning immune system. Even the most banal of infections a cold, a diaper rash could be deadly.

Earlier this year, JaCeon became the first baby at UCSF Benioff Childrens Hospital at Mission Bay to undergo an experimental gene therapy treatment that, doctors hope, will nudge his body to build a new, robust immune system.

From right: Dannie Hawkins checks on her nephew Ja'Ceon Golden, who is being held by patient care assistant Grace Deng at UCSF Benioff Children's Hospital on Wednesday, March 8, 2017, in San Francisco, Calif. Golden, who is five months old, is diagnosed with severe combined immunodeficiency disease (SCID). He is a patient at UCSF, where he stays in a sterile room. The hospital is working on a new gene therapy treatment for SCID. Hawkins brought her nephew Golden from New Mexico for the experimental treatment.

From right: Dannie Hawkins checks on her nephew Ja'Ceon Golden, who...

So far, his results are promising. In a few weeks, JaCeons great aunt, whos also his guardian, hopes to introduce him to the world outside.

Am I going to see him smile when we walk out of here? Dannie Hawkins, 52, said with a glance at the baby, being fed from a bottle by a nurse wearing a gown and gloves. Hows he going to do in the free world?

It will be a while months, probably years before JaCeon is able to fully integrate with that wide world: go to school and birthday parties, ride a public bus, swim in a community pool. But that those activities may be in his future at all is extraordinary.

The treatment given to JaCeon is the result of decades of research into gene therapy that included a string of striking failures that led many doctors to abandon the pursuit altogether.

Gene therapy long had been considered a potential treatment for severe combined immunodeficiency disorder, or SCID, the condition JaCeon was born with, and some other genetic syndromes. The idea is to replace a single gene thats causing trouble.

Even as many doctors gave up on the promise of gene therapy, teams of stubborn scientists kept plugging away. And a few years ago, their experiments started to work, propelled by advances in the understanding of stem cells in this case, a type called hematopoietic stem cells that live in bone marrow and are responsible for generating blood and immune cells and improved methods of delivering genetic repairs.

JaCeon Golden is treated by patient care assistant Grace Deng (center) and pediatric oncology nurse Kat Wienskowski.

JaCeon Golden is treated by patient care assistant Grace Deng...

Now human gene therapy is being tested in trials at UCLA, where a team has treated 20 children with one type of SCID, and at UCSF in collaboration with St. Jude Childrens Research Hospital in Memphis. Both trials are funded by grants from the California Institute for Regenerative Medicine, the states stem cell agency, located in Oakland.

Researchers are studying similar therapies in hopes of curing genetic syndromes like sickle cell disease. And the stem cell agency is funding gene therapy research into potential treatments for HIV, brain cancer and Huntingtons disease, among others.

Gene therapy has been shown to work, the efficacy has been shown. And its safe, said Sohel Talib, a senior science officer at the state stem cell agency. The confidence has come. Now we have to follow it up.

JaCeon was born at a hospital in Las Cruces, N.M., and diagnosed with SCID just after birth as part of a standard newborn screening. He was flown to UCSF, one of a handful of facilities with expertise in SCID, when he was 3 weeks old. His great-aunt joined him about a month later, in November.

The immune disorder is commonly known as bubble baby disease, because until fairly recently kids born with it had to live in isolation, often in plastic bubbles in hospital rooms or their own homes to protect them from infections.

Babies born with SCID have a genetic mutation that leaves their immune system unable to develop disease-fighting cells. Without treatment, most will die within a year. Since the 1970s, some babies with SCID were cured with a bone-marrow transplant. But to be effective, a perfect match was required, almost always from a sibling, and only about a fifth of kids have such a match.

Ja'Ceon Golden is held by patient care assistant Grace Deng, as Deng bottle feeds Golden at UCSF Benioff Children's Hospital on Wednesday, March 8, 2017, in San Francisco, Calif. Golden, who is five months old, is diagnosed with severe combined immunodeficiency disease (SCID). He is a patient at UCSF, where he stays in a sterile room. The hospital is working on a new gene therapy treatment for SCID. Golden was brought from New Mexico for the experimental treatment.

Ja'Ceon Golden is held by patient care assistant Grace Deng, as...

The rest could undergo a bone marrow transplant from a partial match in JaCeons case, his great-aunt was one but even when that treatment was successful, kids were left with fragile immune systems that required constant maintenance with antibiotics and other boosts.

Gene therapy, though, may prove as effective as a bone marrow transplant from a perfect match.

The procedure starts with doctors harvesting stem cells from a babys own bone marrow, usually taken from the hip. In JaCeons case, his stem cells were sent in January to St. Jude in Memphis, where scientists are perfecting the gene-therapy delivery mechanism.

Sending away JaCeons stem cells was probably the most stressful time of my life, short of my own kids maybe being born, said Dr. Morton Cowan, the lead investigator of the UCSF trial, who has worked in SCID research for more than 30 years.

JaCeons stem cells were flown east over the first big weekend of major storms in California. Flights were being canceled around the clock, and doctors only had a window of about 36 hours to get the fresh cells to the labs in Memphis.

The trip was successful, but not without a hitch. After the cells were engineered and were being sent back to California, the material for a few heart-stopping hours got lost in the mail.

In a couple of months, Cowan said, he hopes to be able to do the gene-therapy delivery at UCSF labs, avoiding the travel headaches.

For now, that still happens at St. Jude. Doctors used a virus in fact, HIV, the virus that causes AIDS to deliver the gene therapy to JaCeons stem cells. The virus is neutered, with all of the disease-causing pieces inside removed.

Whats left is a missile-like shell designed to infiltrate a cell and deliver whatever payload doctors have inserted inside in this case, a healthy gene that will restore the stem cells ability to build normal immune cells.

Back in San Francisco, the cells were infused into JaCeon via a port in his chest. Because theyre his own cells, there was no fear his body would reject them.

He did have to undergo mild chemotherapy to kill off some of his own bone marrow and make room for the re-engineered stem cells to roost, but UCSF has been developing a technique for limiting the dosage of chemotherapy given in gene therapy procedures.

JaCeon suffered no obvious side effects from either the stem cell infusion or the chemotherapy drugs, doctors said.

Hes just thriving. Hes just hes great, Cowan said. He added, We cant open the Champagne just yet, but early tests show the new gene is active, and JaCeon has had an uptick of certain immune cells.

The infusion procedure took just 20 minutes, and JaCeon slept through it, but it felt momentous nonetheless.

It had been difficult to decide to enroll JaCeon in the trial, Hawkins said. Since she was a partial match for a bone marrow transplant, she had the option of giving him the traditional and well-tested therapy.

Shed said to his doctors, So youre telling me hes a guinea pig? They told her, she recalls, If it works, he can open the door for other kids.

That night, as Hawkins slept on the decision, I kept waking up, waking up, all night long, she said. If there was a possibility he could save someone else ... she added, and then broke off in tears.

She spends about six hours with JaCeon every day, beginning each morning with a bath in sterile water, brought by nurses in special tubs. Shes constantly wiping down his toys, clothes, bedding and stuffed animals.

Ive changed a lot of diapers in my time, but this is way more complicated than with other kids, Hawkins said, demonstrating the multistep process she uses to prevent diaper rash.

Im not going to say its been easy, she said. But hes doing fine. I wouldnt have it any other way.

Erin Allday is a San Francisco Chronicle staff writer. Email: eallday@sfchronicle.com

Twitter: @erinallday

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Amid advances in gene therapy, 'bubble baby' in SF gains hope - San Francisco Chronicle

The human heart has an innate capacity to remodel in response to advancing coronary artery disease. As plaque builds up in the hearts three major arteries, some genetically privileged patients begin to grow small collateral blood vessels to overcome restricted blood flow and improve cardiac perfusion. This process is known as cardiac angiogenesis. With the passage of time, this response is overrun by disease progression.

Researchers have long wondered if this primal angiogenic healing response could be amplified and regulated through the design and development of angiogenic therapeutics. In recent years, monoclonal antibody therapies have proven effective at harnessing the human bodys natural biological mechanisms to treat cancer. Similarly, within cardiac care, angiogenic gene therapy has shown great promise.

In the U.S., more than one million patients with advanced coronary artery disease suffer from recurrent and severe chest pain, which profoundly limits their physical activity and quality of life. These refractory angina patients are no longer responsive to anti-anginal medications and are either not candidates for stent implantation or bypass surgery, or continue to suffer from angina even after these mechanical revascularization procedures. While drug and proteins appear unsuitable, new research and clinical studies focused on angiogenic gene therapy are now showing great promise as a one-time treatment for more than one million patients in the U.S. with advanced coronary artery disease and refractory angina.

The successful commercialization of an angiogenic gene therapy will require (1) an angiogenic growth factor that regulates the multiple proteins required to orchestrate micro-vessel growth and enlargement; (2) a simple percutaneous catheter-based delivery system to deliver the angiogenic gene therapy into heart cells; and (3) a deep understanding and characterization of patients who are most likely to benefit from angiogenic gene therapy, enabling design of a clinical study properly powered to detect treatment effects and assess potential risk-benefit.

Choice of Angiogenic Growth Factor

One key element of successful gene therapy is gene expression in the targeted cells, at a functional level. For angiogenic gene therapy, a central challenge has been identifying the growth factors that can stimulate the complex angiogenic biological process. It has been debated and widely studied whether the delivery of vascular endothelial growth factor (VEGF) or other growth factors, alone or in combination, is ideal for collateral vessel development. Recent research suggests a more fruitful approach may be the use of a specific regulatory gene, FGF-4, that is now known to activate VEGFs and the cascade of events required to stimulate cardiac angiogenesis. Using a regulatory gene is likely more practical than trying to determine which individual growth factor or growth factor combination is best suited for the job.

Simplified Catheter-Based Delivery Options

Even with firm understanding of the merits of individual angiogenic growth factors, a separate question remains: Which DNA delivery system is best suited for cardiovascular angiogenic gene therapy?

Advances have come with a key realization: the facilitation of coronary collateral formation requires a relatively short duration of gene expressiononly a few weeks. Vector systems that meet this requirement include plasmid constructs and adenovirus. So here was the next challenge: determining which of these two approaches was optimal. Plasmids are easy to manufacture and safe but have very low level and short duration of muscle transduction and could be delivered to the heart mainly through direct intramuscular injections. Adenoviral vectors, on the other hand, can be administered via the intravascular route and have been shown to achieve high transfection efficiency in heart muscle cells with transgene expression lasting for two to six weeks. The relatively short duration of growth factor gene expression by the adenovirus serotype 5 (Ad5) vector has proved sufficient for the building of new functional biological structures such as coronary collateral vessels.

Studies have demonstrated that fibroblast growth factor-4 (FGF-4) can promote the growth of existing or new collateral vessels in the heart, when delivered as a gene within an Ad5 vector. The resulting molecular packagenamed Ad5FGF-4is delivered into the heart as a one-time treatment during a standard angiogram-like procedure. The biologic is delivered in front of a balloon that briefly blocks blood flow, allowing the treatment to more easily leave the blood vessel and enter the cardiac muscle. FGF-4 gene expression promotes the development of new collateral vessels and the enlargement of existing collateral vessels in ischemic areas of the heart, to increase blood flow to these oxygen-starved regions.

Effective Clinical Study Design

An additional hindrance to historical progress in cardiovascular gene therapy may have involved study design. The standard endpoint used in most cardiovascular therapeutic angiogenesis studiese.g., exercise tolerance testing (ETT)is based on decades of experience with clinical development of small molecule anti-anginal drugs, and is still considered by regulatory authorities to be a relevant indicator of clinical effectiveness. In general, clinically significant improvements in ETT time resulting from mechanical revascularization (bypass surgery and stents), pharmacologic interventions or gene therapy, represent improved functional capacity for treated patients. ETT is known to be subject to placebo effect, and therefore careful study design, including well-defined patient inclusion criteria (e.g. limited baseline ETT capacity) and controlled testing conditions and criteria are essential for meaningful outcomes.

An attempt to fuse the insights and overcome the roadblocks summarized above are fueling ongoing efforts to improve and advance angiogenic gene therapy. Future studies are likely to elucidate the most promising therapies for cardiovascular angiogenic gene therapy and offer hope to the many patients for whom angina is currently a source of deep concern causing significant negative impact on quality of life.

Christopher J. Reinhard is Chief Executive Officer of Angionetics Inc., a company focused on the late-stage clinical development and commercialization of Generx, an angiogenic gene therapy product candidate designed for medical revascularization for the potential treatment of patients with myocardial ischemia and refractory angina due to advanced coronary artery disease.

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Angiogenic Gene Therapy for the Heart: Overcoming the Roadblocks - Drug Discovery & Development

Pfizer, which scooped up Bamboo Therapeutics last year in its aim to be a major player in gene therapies, is now looking at building a gene therapy production facility in North Carolina where the biotech is based.

Pfizer spokeswoman Kimberly Becker confirmed a report by the Triangle Business Journal that the company has been exploring the area. The newspaper was told by sources that Pfizer has talked to state and local officials about a potential $100 million expansion project. Bamboo is based inChapel Hill.

We recently announced that were moving forward with scoping potential sites in Sanford for our new gene therapy site. This work is still in the preliminary stages and we arent able to share additional detail at this time, Becker said in an email.

The sources told the newspaper thatPfizer also is considering putting it in Massachusetts. The drugmakercurrently is erecting a $200 million biologics and vaccines production facility at its campus in Andover.

But Bamboo already has an 11,000-square foot, fully staffed and operational manufacturing facility in Sanford it acquired last year from the University of North Carolina about the time that Pfizer made an initial investment in the company. Bamboo has produced phase I and II materials using a in the facility using what Pfizer said was superior suspension, cell-based production platform that increases scalability, efficiency and purity.

Pfizer last year bought Bamboo in two-step deal, laying out $193 million to acquire its stock, with a pledge of up to $495 million more in milestones. With gene therapies, genetic material is introduced into a patients body to replace gene mutations that cause disease.

The biotech is working on recombinant adeno-associated virus (rAAV)-based gene therapies for rare diseases. It has a pre-clinical asset for Duchenne Muscular Dystrophy (DMD); and three targeted at the central nervous system, with pre-clinical assets for Friedreichs Ataxia and Canavan disease, and a Phase I asset for Giant Axonal Neuropathy, Pfizer said.

Pfizer first entered the emerging field in 2014 with a deal with Spark Therapeutics in hemophilia. At that time, the company also established a dedicated gene therapy research center in London known as the Genetic Medicines Institute which falls under its Rare Disease Research Unit.

While the field offers the hope of one-time cures by dealing with the genetic root cause of a disease, it offers challenges for insurance coverage and payments. There have been no gene therapies approved yet in the U.S., but Dutch company uniQure developed the firstgene therapy approved in Europe, a treatment thathas been termed the worlds most expensive drug.

Approved in 2012, Glybera is priced at more than $1.2 million. Only one German doctor has been able to win insurance approval, despite the fact the treatment can cure the ultra-rare disease called lipoprotein lipase deficiency. uniQure is now focused on a hemophilia B program, competing with the gene therapy being developed by Spark Therapeutics with Pfizer.uniQure, which has had to eliminatejobs to cut costs, has a $25 million, 55,000-square-foot gene therapy manufacturing facility in Lexington, Massachusetts.

GlaxoSmithKline has also won approval in Europe for Strimvelis, its gene therapy for bubble boy disease. It is offering the one-time treatment at about $665,000, with a money-back guarantee.

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Pfizer looks at building major gene therapy manufacturing facility in ... - FiercePharma

FOX31 Denver

Sickle cell anemia patient 'cured' by gene therapy, doctors say FOX31 Denver Gene therapy holds promise because a patient serves as his own donor, and the risks are much reduced since there's no possibility of a mismatch, said Thompson, who was not involved in this research but is an investigator on a related gene therapy ... Gene therapy shows early promise against sickle cellChicago Tribune Doctors Claim They've Cured a Boy of a Painful Blood Disorder Using Gene TherapyFuturism Teenager's sickle cell reversed with world-first therapyBBC News BioNews -Fox News -New England Journal of Medicine all 79 news articles »

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Sickle cell anemia patient 'cured' by gene therapy, doctors say - FOX31 Denver

Researchers at Stanford have made mice glow using a new gene therapy technique, showing that the process can work on living animals.

(Courtesy of Linda Cicero).

Named charge-altering releasable transporters (CARTs), the new technique allows researchers to control how much of a desired protein is expressed inside a cell, and how long the gene therapy lasts. It has a variety of applications to many central problems in biology and medicine, including immunology and cancer research.

Previous gene therapy techniques have relied on permanently changing the DNA within a cell. Colin McKinlay, a third-year Ph.D. student in chemistry and co-lead author on the paper, explains that CARTs take advantage of messenger RNA (mRNA) rather than DNA to give researchers greater control over the process.

By introducing mRNA into the cells, you can basically tell those cells to produce any given protein, McKinlay said. Its more of a temporary effect and you have a lot more control over doing that.

However, mRNA molecules are too large to enter the cell on their own. CARTs are able to latch onto the mRNA, cross the cell membrane, release the mRNA into the cell and quickly degrade into small molecules called metabolites naturally recognizable by the cell. After that, the cell takes over, translating the mRNA into the desired proteins.

Its kind of like the cell already has all of the ingredients, McKinlay said. Were just providing the recipe, and the cell then puts all the pieces together.

One possible application of the new gene therapy technique is creating new types of vaccinations. Typical vaccination techniques involve introducing a dead or weakened antigen, bacteria and foreign substances such as viruses into the cell, which the body then uses to create antibodies. CARTs could allow researchers to temporarily introduce specific proteins from the antigens into cells in order to specify targets for the immune system that are less sensitive to antigen mutation.

CARTs also have the potential to be used as a research tool. As transient polycations, CARTs allow proteins to be introduced and manufactured by the cell in controlled quantities and for a controlled amount of time, making them a valuable resource for studying signaling cascades and other biological phenomena.

The team behind CARTs primarily consists ofWender and Waymouth Group researchers, andalso drawson collaborators across Stanford. As the team begins to test the potential applications of CARTs, more researchers are expected to come on board.

In their recent paper on bioluminescent proteins in mice, researchers worked with Christopher Contag, a professor of pediatrics at Stanford, to show that the technique can work in vivo in animal models,bringing the team a step closer to using it in humans.

We couldnt have done it if we were stuck just within the confines of the chemistry department, said Jessica Vargas 16, a formerPh.D. student in the Wender Lab and a co-lead author on the paper. The work in general is a true testament to Stanfords collaborative spirit.

Contact Aulden Foltz at afoltz at stanford.edu.

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Researchers develop controllable gene therapy, make rats glow ... - The Stanford Daily

FOX 61

Sickle cell anemia patient 'cured' by gene therapy, doctors say FOX 61 In a world first, a teenager with sickle cell disease achieved complete remission after an experimental gene therapy at Necker Children's Hospital in Paris, researchers say. People with sickle-cell disease, a group of inherited blood disorders, have ... Gene therapy shows early promise against sickle cellChicago Tribune Gene therapy lets teen dodge sickle cell diseaseWDEF News 12 Doctors Claim They've Cured a Boy of a Painful Blood Disorder Using Gene TherapyFuturism The Durango Herald -BioNews -BBC News -New England Journal of Medicine all 78 news articles »

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Sickle cell anemia patient 'cured' by gene therapy, doctors say - FOX 61

Adverum Biotechnologies Reports Fourth Quarter and Full Year 2016 Financial Results and Provides Update P&T Community The companies' research collaboration and license agreement, entered into in May 2014 for an initial period of three years, was created to discover, develop and commercialize novel gene therapy products for the treatment of ophthalmologic diseases. and more »

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Adverum Biotechnologies Reports Fourth Quarter and Full Year 2016 Financial Results and Provides Update - P&T Community

Gene therapy is the use of DNA as a potential therapy to treat a disease.In many disorders, particularly genetic diseases caused by a single genetic defect, gene therapy aims to treat a disease by delivering the correct copy of DNA into a patients cells.The healthy, functional copy of the therapeutic gene then helps the cell function correctly.

In gene therapy, DNA that encodes a therapeutic protein is packaged within a vector, often a naked virus, which is used to transfer the DNA to the inside of cells within the body. Gene therapy can be delivered by a direct injection, either intravenously (IV) or directly into a specific tissue in the body, where it is taken up by individual cells. Once inside cells, the correct DNA becomes expressed by the cell machinery, resulting in the production of therapeutic protein, which in turn treats the patients disease and can provide long-term benefit.

Abeona is developing next generation adeno-associated virus (AAV) gene therapies. Viruses such as AAV are utilized because they have evolved a way of encapsulating and delivering one or more genes of the size needed for clinical application, and can be purified in large quantities at high concentration. Unlike AAV vectors found in nature, the AAV vectors used by Abeona have been genetically-modified such that they do not replicate. Although the preclinical studies in animal models of disease demonstrate the promising impact of AAV-mediated gene expression to affected tissues such as the heart, liver and muscle, our programs use a specific virus that is capable of delivering therapeutic DNA across the blood brain barrier and into the central nervous system (CNS), making them attractive for addressing lysosomal storage diseases which have severe CNS manifestations of the disease.

Lysosomal storage diseases (LSD) are a group of rare inborn errors of metabolism resulting from deficiency in normal lysosomal function. These diseases are characterized by progressive accumulation of storage material within the lysosomes of affected cells, ultimately leading to cellular dysfunction. Multiple tissues ranging from musculoskeletal and visceral to tissues of the central nervous system are typically involved in disease pathology.

Since the advent of enzyme replacement therapy (ERT) to manage some LSDs, general clinical outcomes have significantly improved; however, treatment with infused protein is lifelong and continued disease progression is still evident in patients. Thus, viral gene therapy may provide a viable alternative or adjunctive therapy to current management strategies for LSDs.

Our initial programs are focused on LSDs such as Mucopolysaccharidosis (MPS) IIIA and IIIB, also known as Sanfilippo syndromes type A and type B. MPS III is a progressive neuromuscular disease with profound CNS involvement. Our lead product candidates, ABO-101 and ABO-102, have been developed to replace the damaged, malfunctioning enzymes within target cells with the normal, functioning version.

Delivered via a single injection, the drug is only given once.

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Gene Therapy - Abeona Therapeutics

RALEIGH The North Carolina Biotechnology Center revealed Tuesday that pharmaceutical giant Pfizer Inc. has committed $4 million to the center to establish multi-year academic fellowships to aid the gene-therapy sector in the state.

The new program, which will be managed by N.C. Biotech, will support distinguished postdoctoral fellowships in North Carolina university research laboratories focused on gene therapy research.

The $4 million grant was announced during the CED Life Science Convention being held in Raleigh this week.

Pfizers contribution represents another step in its relationship with the state. The company operates a pharmaceutical manufacturing facility in Sanford, and last August, it purchased the Chapel Hill-based gene-therapy company Bamboo Therapeutics Inc. for $645 million.

Jude Samulski, director of the Gene Therapy Center at the University of North Carolina at Chapel Hill co-founded Bamboo. Samulski was recruited to UNC in 1993 as part of a $430,000 N.C. Biotech grant and Bamboos former parent company received more than $700,000 in Biotech Center grants and loans.

The announcement of the fellowship is an indicator that Bamboo is still committed to the area after the Pfizer acquisition.

The funding provided by Pfizer will enable N.C. Biotech to create two-year fellowships for postdoctoral scientists. The funding will cover salaries, benefits, materials, professional development and travel for the scientists. Information about the fellowships can be found at http://www.ncbiotech.org/pfizer-fellowships.

Pfizer embraced the opportunity to work with us given weve proven for more than 30 years that we have the expertise and success metrics to maximize impact, Biotech Center CEO Doug Edgeton said in a statement. We not only have outstanding research institutions across our state, but we also have a well-respected culture of partnering and collaboration that allows us to be nimble and responsive.

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N.C. Biotech Center gets $4M grant from Pfizer | Business ... - Durham Herald Sun

In a world first, a teenager with sickle cell disease achieved complete remission after an experimental gene therapy at Necker Childrens Hospital in Paris, researchers say.

People with sickle-cell disease, a group of inherited blood disorders, have abnormal hemoglobin in their red blood cells, causing blood to clog in the tiny vessels and organs of the body.

After 15 months since treatment, the patient who began therapy at age 13 no longer needs medication, and his blood cells show no further sign of the disease, according to a case report published Thursday in The New England Journal of Medicine.

Since therapy was applied, he hasnt had any pain, any complications. He is free of any transfusions. He plays sports and goes to school, said Dr. Philippe Leboulch, an author of the new research and a professor of medicine at the University of Paris. So we are quite pleased with the results.

This success provides proof of concept for human patients, Leboulch said.

According to Dr. Marina Cavazzana, senior author of the study and head of the biotherapy department at Necker, all the biological tests we perform lead us to think he is cured. Yet, she added, the answer to the question of whether he is truly cured can be provided only by the longer follow-up.

Still, hopes are running high that patients with this very devastating disease can receive this therapy in the next five years, Cavazzana said. This is our hope, and we work very hard to attain it.

A global burden

Worldwide, more than 275,000 infants are born with sickle cell disease each year. In the United States, approximately 100,000 people, most of African ancestry or identifying as black, currently have it. About one in every 365 black children in the US is born with sickle cell disease, for which the life expectancy is now about 40 to 60 years.

Sickle cell disease is one of the most common gene disorders in the world, explained Leboulch. A genetic mutation causes hemoglobin, the main constituent of red blood cells, to distort the shape of the cell, and this causes the blood to aggregate or clog.

This leads to tremendous pain, anemia and also lesions of organs that ultimately result in shortness of life expectancy, Leboulch said. So what we did here was, we tried to inhibit the process of aggregation.

Essentially, researchers extracted bone marrow from the patient, harvested the stem cells and altered the genetic instructions so that they would make normal hemoglobin. Next, they treated the patient with chemotherapy for four days to eliminate his diseased stem cells. Finally, they returned the treated stem cells via an IV into his bloodstream.

At that point, the new cells that were modified outside the body started to make new blood cells, and we hope this will be stable for the life of the patient, Leboulch said.

Before receiving treatment, the teen had terrible pain and needed blood transfusions, which required twice-yearly hospitalizations, Leboulch explained. His many complications included necrosis of the hip, which necessitated hip replacement surgery.

Hope for all patients

Going forward, the plan is to proceed through clinical trials and, if results are promising, make the treatment available to patients. Leboulch and his colleagues are using the same genetic therapy to treat a similar disease called thalassemia, another inherited blood disorder in which patients have less hemoglobin and fewer red blood cells than normal. Severe forms require regular blood transfusions.

Leboulch and his colleagues have global phase 2 and phase 3 trials for the thalassemia treatment underway in France, the US, Australia and Thailand.

For sickle cell disease, a companion trial in the US is underway. I understand that seven (sickle cell) patients have been treated already. Of course, the outcome is much shorter, and we dont have the results just yet, but its coming along, Leboulch said.

To apply this to a baby or a very young child should be at least as effective or more, he said. Doing it with older patients, who have had years of complications, could be more challenging.

Leboulch also noted that gene therapy is easier on patients than procedures requiring outside donors. Previously, hematopoietic stem cell transplant, which replaces a patients bone marrow with that of a donor, has proved an effective cure for some patients.

According to Dr. Alexis Thompson, president-elect of the American Society of Hematology, the majority of sickle cell disease patients do not have a sibling who would be an appropriate match for bone marrow donation.

Gene therapy holds promise because a patient serves as his own donor, and the risks are much reduced since theres no possibility of a mismatch, said Thompson, who was not involved in this research but is an investigator on a related gene therapy study.

I think this is a really very exciting advancement, she said, adding that if the results seen in France can be duplicated, this would provide for a new direction for patients who need a curative option.

According to Dr. Trish Wong of Oregon Health and Science University, the new study is truly amazing work proof of principle that a cure for this chronic, devastating disease is in sight. Wong was not involved in the new research.

Gene therapy offers hope for all patients with sickle cell disease, regardless of whether they have a bone marrow match or not, Wong wrote in an email.

Time is still needed to assess the success of this treatment and the possibility of later side effects, said Wong. But any patient with severe sickle cell disease will tell you that being able to live a life for even a year without medications or fear of pain or hospitalization is substantial.

Finally, Dr. Grace Onimoe of the American Sickle Cell Anemia Association noted that the life expectancy of a patients with sickle cell disease remains decades lower than that of the general population while children throughout the world continue to suffer. Onimoe, who was not involved in the new research, said, As more work continues in the area of gene therapy to enhance safety and reduce potential complications, we remain optimistic of the promise it holds.

Leboulch also feels very hopeful.

Now, we want to be cautious, of course, and we dont want to say that this is the cure for tomorrow or the next day for everybody, he said. At the same time, what weve observed is really convincing, and we just hope that we can move this along to make it available to patients.

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Sickle cell anemia patient 'cured' by gene therapy, doctors say - wtkr.com

WEDNESDAY, March 1, 2017 (HealthDay News) -- Researchers are reporting early success using gene therapy to treat, or even potentially cure, sickle cell anemia.

The findings come from just one patient, a teenage boy in France. But more than 15 months after receiving the treatment, he remained free of symptoms and his usual medications.

That's a big change from his situation before the gene therapy, according to his doctors at Necker Children's Hospital in Paris.

For years, the boy had been suffering bouts of severe pain, as well as other sickle cell complications that affected his lungs, bones and spleen.

Medical experts stressed, however, that much more research lies ahead before gene therapy can become an option for sickle cell anemia.

It's not clear how long the benefits will last, they said. And the approach obviously has to be tested in more patients.

"This is not right around the corner," said Dr. George Buchanan, a professor emeritus of pediatrics at the University of Texas Southwestern Medical Center in Dallas.

That said, Buchanan called the results a "breakthrough" against a disease that can be debilitating and difficult to treat.

Buchanan, who wasn't involved in the research, helped craft the current treatment guidelines for sickle cell.

"This is what people have been wanting and waiting for," he said. "So it's exciting."

Sickle cell anemia is an inherited disease that mainly affects people of African, South American or Mediterranean descent. In the United States, about 1 in 365 black children is born with the condition, according to the U.S. National Heart, Lung, and Blood Institute.

It arises when a person inherits two copies of an abnormal hemoglobin gene -- one from each parent. Hemoglobin is an oxygen-carrying protein in the body's red blood cells.

When red blood cells contain "sickle" hemoglobin, they become crescent-shaped, rather than disc-shaped. Those abnormal cells tend to be sticky and can block blood flow -- causing symptoms such pain, fatigue and shortness of breath. Over time, the disease can damage organs throughout the body.

There are treatments for sickle cell, such as some cancer drugs, Buchanan pointed out, but they can be difficult to manage and have side effects.

There is one potential cure for sickle cell, Buchanan said: a bone marrow transplant.

In that procedure, doctors use chemotherapy drugs to wipe out the patient's existing bone marrow stem cells -- which are producing the faulty red blood cells. They are then replaced with bone marrow cells from a healthy donor.

A major problem, Buchanan said, is that the donor typically has to be a sibling who is genetically compatible -- and free of sickle cell disease.

"We've known for a long time that bone marrow transplants can work," Buchanan said. "But most patients don't have a donor."

That's where gene therapy could fit in. Essentially, the aim is to genetically alter patients' own blood stem cells so they don't produce abnormal hemoglobin.

In this case, the French team, led by Dr. Marina Cavazzana, of Necker Children's Hospital's biotherapy department, focused on a gene called beta globin. In sickle cell anemia, beta globin is mutated.

First, the researchers extracted a stem cell supply from their teen patient's bone marrow, before using chemotherapy to wipe out the remaining stem cells.

Then they used a modified virus to deliver an "anti-sickling" version of the beta globin gene into the stem cells they'd removed pre-chemo. The modified stem cells were infused back into the patient.

Over the next few months, the boy showed a growing number of new blood cells bearing the mark of the anti-sickling gene. The result was that roughly half of his hemoglobin was no longer abnormal.

In essence, Buchanan explained, the therapy "converted" the patient to sickle-cell trait -- that is, a person who carries only one copy of the abnormal hemoglobin gene. Those individuals don't develop sickle cell disease.

"This is encouraging," said Dr. David Williams, president of the Dana-Farber/Boston Children's Cancer and Blood Disorders Center.

But, he cautioned, "the caveat is, this is one patient, and 15 months is a short follow-up."

Williams and his colleagues are studying a different approach to sickle cell gene therapy. It aims to restart the body's production of healthy fetal hemoglobin -- to replace the abnormal "adult" hemoglobin seen in sickle cell.

The hope, Williams said, is that gene therapy will ultimately offer a one-time treatment that cures sickle cell. But no one knows yet whether that will happen.

According to Williams, two key questions are: What's the long-term safety? And will the altered stem cells last for a patient's lifetime?

If gene therapy is proven to work, there will no doubt be practical obstacles to its widespread use, according to Buchanan. It's a high-tech treatment, and many sickle cell patients are low-income and far from a major medical center, he said.

But, Buchanan said, the new findings have now "opened a door."

The study was partly funded by Bluebird Bio, the company developing the therapy.

The results were published March 1 in the New England Journal of Medicine.

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Gene Therapy: A Breakthrough for Sickle Cell Anemia? - Lincoln Journal Star

"Since therapy was applied, he hasn't had any pain, any complications. He is free of any transfusions. He plays sports and goes to school," said Dr. Philippe Leboulch, an author of the new research and a professor of medicine at the University of Paris. "So we are quite pleased with the results."

This success provides proof of concept for human patients, Leboulch said.

According to Dr. Marina Cavazzana, senior author of the study and head of the biotherapy department at Necker, "all the biological tests we perform lead us to think he is cured." Yet, she added, the answer to the question of whether he is truly cured "can be provided only by the longer follow-up."

Still, hopes are running high that patients with this very devastating disease can receive this therapy "in the next five years," Cavazzana said. "This is our hope, and we work very hard to attain it."

Worldwide, more than 275,000 infants are born with sickle cell disease each year. In the United States, approximately 100,000 people, most of African ancestry or identifying as black, currently have it. About one in every 365 black children in the US is born with sickle cell disease, for which the life expectancy is now about 40 to 60 years.

Sickle cell disease is one of the most common gene disorders in the world, explained Leboulch. A genetic mutation causes hemoglobin, the main constituent of red blood cells, to distort the shape of the cell, and this causes the blood to aggregate or clog.

This leads to "tremendous pain, anemia and also lesions of organs that ultimately result in shortness of life expectancy," Leboulch said. "So what we did here was, we tried to inhibit the process of aggregation."

Essentially, researchers extracted bone marrow from the patient, harvested the stem cells and altered the genetic instructions so that they would make normal hemoglobin. Next, they treated the patient with chemotherapy for four days to eliminate his diseased stem cells. Finally, they returned the treated stem cells via an IV into his bloodstream.

"At that point, the new cells that were modified outside the body started to make new blood cells, and we hope this will be stable for the life of the patient," Leboulch said.

Before receiving treatment, the teen had terrible pain and needed blood transfusions, which required twice-yearly hospitalizations, Leboulch explained. His many complications included necrosis of the hip, which necessitated hip replacement surgery.

Going forward, the plan is to proceed through clinical trials and, if results are promising, make the treatment available to patients. Leboulch and his colleagues are using the same genetic therapy to treat a similar disease called thalassemia, another inherited blood disorder in which patients have less hemoglobin and fewer red blood cells than normal. Severe forms require regular blood transfusions.

Leboulch and his colleagues have global phase 2 and phase 3 trials for the thalassemia treatment underway in France, the US, Australia and Thailand.

For sickle cell disease, a companion trial in the US is underway. "I understand that seven (sickle cell) patients have been treated already. Of course, the outcome is much shorter, and we don't have the results just yet, but it's coming along," Leboulch said.

"To apply this to a baby or a very young child should be at least as effective or more," he said. "Doing it with older patients, who have had years of complications, could be more challenging."

According to Dr. Alexis Thompson, president-elect of the American Society of Hematology, the majority of sickle cell disease patients do not have a sibling who would be an appropriate match for bone marrow donation.

"Gene therapy holds promise because a patient serves as his own donor," and the "risks are much reduced" since there's no possibility of a mismatch, said Thompson, who was not involved in this research but is an investigator on a related gene therapy study.

"I think this is a really very exciting advancement," she said, adding that if the results seen in France can be duplicated, this would provide "for a new direction for patients who need a curative option."

"Gene therapy offers hope for all patients with sickle cell disease, regardless of whether they have a bone marrow match or not," Wong wrote in an email.

"Time is still needed" to assess the success of this treatment and the possibility of later side effects, said Wong. "But any patient with severe sickle cell disease will tell you that being able to live a life for even a year without medications or fear of pain or hospitalization is substantial."

Leboulch also feels very hopeful.

"Now, we want to be cautious, of course, and we don't want to say that this is the cure for tomorrow or the next day for everybody," he said. "At the same time, what we've observed is really convincing, and we just hope that we can move this along to make it available to patients."

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Sickle cell anemia patient 'cured' by gene therapy, doctors say - CNN

Potential Treatment

Gene therapy has been available for quite some time now. Advances in modern medical science, particularly in stem cell research, have made it possible to use DNA to compensate for malfunctioning genes in humans. The therapies haveeven proven effective fortreating rare forms of diseases. Now, a research team in France has shown that gene therapy may be used to cure one of the most common genetic diseases in the world.

The team, led by Marina Cavazzana at the Necker Childrens Hospital in Paris, conducted stem cell treatment on a teenage boy with sickle cell disease. The disease alters theblood through beta-globin mutations, which cause abnormalities in the blood proteinhemoglobin. These abnormalities cause the blood cells (which have an irregular shape, like a sickle, hence their name) to clump together. Patients with sickle cell disease usually need transfusions to clear the blockages their cells cause, and some are able to have bone marrow transplants. About 5 percent of the global population has sickle cell disease,according to the WHO. In the United States alone, the CDC reports that approximately 100,000 people have sickle cell disease.

The patient is now 15 years old and free of all previous medication, Cavazzana saidwhen discussing the outcome of their study. He has been free of pain from blood vessel blockages, and has given up taking opioid painkillers. Their research is published in the the New England Journal of Medicine.

The particular treatment given to the teenage boy at Necker Childrens Hospitalbegan when he was 13 years old. The team took bone marrow stem cells from the boy and added mutated versions of the gene that codes for beta-globin before putting these stem cells back into the boys body. The mutated genes were designed to stop hemoglobin from clumping together and blocking blood vessels the hallmark of sickle cell disease.

Two years later, the boys outcomelooks promising.All the tests we performed on his blood show that hes been cured, but more certainty can only come from long-term follow-up, Cavazzan said. Her team also treated seven other patients who also showed promising progress.

If the method shows success in larger scale clinical trials, it could be a game changer, saidDeborah Gill at the University of Oxford, The fact the team has a patient with real clinical benefit, and biological markers to prove it, is a very big deal.

Other research involving gene therapy is also showing similar promise. One which has already been approved by the FDA is a potential treatment for blindness. Others look at treating Parkinsons disease or evenprolonging human life. What these studies show is that gene therapyand stem cells may be able togive hope to patients with diseases that have long been considered incurable.

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Doctors Claim They've Cured a Boy of a Painful Blood Disorder Using Gene Therapy - Futurism