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Archive for the ‘Gene Therapy Research’ Category

Using CRISPR to reverse retinitis pigmentosa and restore visual … – Science Daily


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Using CRISPR to reverse retinitis pigmentosa and restore visual ...
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Using the gene-editing tool CRISPR/Cas9, researchers have reprogrammed mutated rod photoreceptors to become functioning cone photoreceptors, reversing ...

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Using CRISPR to reverse retinitis pigmentosa and restore visual ... - Science Daily

Reversing Gene Damage to Treat Blindness | Technology Networks – Technology Networks

Confocal micrograph of mouse retina depicting optic fiber layer. Image courtesy of National Center for Microscopy and Imaging Research, UC San Diego.

Using the gene-editing tool CRISPR/Cas9, researchers at University of California San Diego School of Medicine and Shiley Eye Institute at UC San Diego Health, with colleagues in China, have reprogrammed mutated rod photoreceptors to become functioning cone photoreceptors, reversing cellular degeneration and restoring visual function in two mouse models of retinitis pigmentosa.

The findings are published in the April 21 advance online issue of Cell Research.

Retinitis pigmentosa (RP) is a group of inherited vision disorders caused by numerous mutations in more than 60 genes. The mutations affect the eyes photoreceptors, specialized cells in the retina that sense and convert light images into electrical signals sent to the brain. There are two types: rod cells that function for night vision and peripheral vision, and cone cells that provide central vision (visual acuity) and discern color. The human retina typically contains 120 million rod cells and 6 million cone cells.

In RP, which affects approximately 100,000 Americans and 1 in 4,000 persons worldwide, rod-specific genetic mutations cause rod photoreceptor cells to dysfunction and degenerate over time. Initial symptoms are loss of peripheral and night vision, followed by diminished visual acuity and color perception as cone cells also begin to fail and die. There is no treatment for RP. The eventual result may be legal blindness.

In their published research, a team led by senior author Kang Zhang, MD, PhD, chief of ophthalmic genetics, founding director of the Institute for Genomic Medicine and co-director of biomaterials and tissue engineering at the Institute of Engineering in Medicine, both at UC San Diego School of Medicine, used CRISPR/Cas9 to deactivate a master switch gene called Nrl and a downstream transcription factor called Nr2e3.

CRISPR, which stands for Clustered Regularly Interspaced Short Palindromic Repeats, allows researchers to target specific stretches of genetic code and edit DNA at precise locations, modifying select gene functions. Deactivating either Nrl or Nr2e3 reprogrammed rod cells to become cone cells.

Cone cells are less vulnerable to the genetic mutations that cause RP, said Zhang. Our strategy was to use gene therapy to make the underlying mutations irrelevant, resulting in the preservation of tissue and vision.

The scientists tested their approach in two different mouse models of RP. In both cases, they found an abundance of reprogrammed cone cells and preserved cellular architecture in the retinas. Electroretinography testing of rod and cone receptors in live mice show improved function.

Zhang said a recent independent study led by Zhijian Wu, PhD, at National Eye Institute, part of the National Institutes of Health, also reached similar conclusions.

The researchers used adeno-associated virus (AAV) to perform the gene therapy, which they said should help advance their work to human clinical trials quicker. AAV is a common cold virus and has been used in many successful gene therapy treatments with a relatively good safely profile, said Zhang. Human clinical trials could be planned soon after completion of preclinical study. There is no treatment for RP so the need is great and pressing. In addition, our approach of reprogramming mutation-sensitive cells to mutation-resistant cells may have broader application to other human diseases, including cancer.

This article has been republished frommaterialsprovided by University of California - San Diego. Note: material may have been edited for length and content. For further information, please contact the cited source.

Reference

Zhu, J., Ming, C., Fu, X., Duan, Y., Hoang, D. A., Rutgard, J., . . . Zhang, K. (2017). Gene and mutation independent therapy via CRISPR-Cas9 mediated cellular reprogramming in rod photoreceptors. Cell Research. doi:10.1038/cr.2017.57

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Reversing Gene Damage to Treat Blindness | Technology Networks - Technology Networks

Underlying cause of a form of macular degeneration characterized – Science Daily

Underlying cause of a form of macular degeneration characterized
Science Daily
The new information sets the team up for testing a gene therapy to treat the disease, as the researchers will be able to observe whether or not these structural and biochemical abnormalities have been corrected. "Now that we understand what we're ...

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Underlying cause of a form of macular degeneration characterized - Science Daily

Using CRISPR to Reverse Retinitis Pigmentosa and Restore Visual … – Newswise (press release)

Newswise Using the gene-editing tool CRISPR/Cas9, researchers at University of California San Diego School of Medicine and Shiley Eye Institute at UC San Diego Health, with colleagues in China, have reprogrammed mutated rod photoreceptors to become functioning cone photoreceptors, reversing cellular degeneration and restoring visual function in two mouse models of retinitis pigmentosa.

The findings are published in the April 21 advance online issue of Cell Research.

Retinitis pigmentosa (RP) is a group of inherited vision disorders caused by numerous mutations in more than 60 genes. The mutations affect the eyes photoreceptors, specialized cells in the retina that sense and convert light images into electrical signals sent to the brain. There are two types: rod cells that function for night vision and peripheral vision, and cone cells that provide central vision (visual acuity) and discern color. The human retina typically contains 120 million rod cells and 6 million cone cells.

In RP, which affects approximately 100,000 Americans and 1 in 4,000 persons worldwide, rod-specific genetic mutations cause rod photoreceptor cells to dysfunction and degenerate over time. Initial symptoms are loss of peripheral and night vision, followed by diminished visual acuity and color perception as cone cells also begin to fail and die. There is no treatment for RP. The eventual result may be legal blindness.

In their published research, a team led by senior author Kang Zhang, MD, PhD, chief of ophthalmic genetics, founding director of the Institute for Genomic Medicine and co-director of biomaterials and tissue engineering at the Institute of Engineering in Medicine, both at UC San Diego School of Medicine, used CRISPR/Cas9 to deactivate a master switch gene called Nrl and a downstream transcription factor called Nr2e3.

CRISPR, which stands for Clustered Regularly Interspaced Short Palindromic Repeats, allows researchers to target specific stretches of genetic code and edit DNA at precise locations, modifying select gene functions. Deactivating either Nrl or Nr2e3 reprogrammed rod cells to become cone cells.

Cone cells are less vulnerable to the genetic mutations that cause RP, said Zhang. Our strategy was to use gene therapy to make the underlying mutations irrelevant, resulting in the preservation of tissue and vision.

The scientists tested their approach in two different mouse models of RP. In both cases, they found an abundance of reprogrammed cone cells and preserved cellular architecture in the retinas. Electroretinography testing of rod and cone receptors in live mice show improved function.

Zhang said a recent independent study led by Zhijian Wu, PhD, at National Eye Institute, part of the National Institutes of Health, also reached similar conclusions.

The researchers used adeno-associated virus (AAV) to perform the gene therapy, which they said should help advance their work to human clinical trials quicker. AAV is a common cold virus and has been used in many successful gene therapy treatments with a relatively good safely profile, said Zhang. Human clinical trials could be planned soon after completion of preclinical study. There is no treatment for RP so the need is great and pressing. In addition, our approach of reprogramming mutation-sensitive cells to mutation-resistant cells may have broader application to other human diseases, including cancer.

Co-authors include: Jie Zhu and Xin Fu, Guangzhou Women and Childrens Medical Center; Chang Ming, Duc Ahn Hoang and Wenjun Xiong, City University of Hong Kong; Yaou Duan, Jeffrey Rutgard, Runze Zhang, Wenqui Wang, Daniel Zhang, Edward Zhang and Charlotte Zhang, Shiley Eye Institute, Institute for Engineering in Medicine and Institute for Genomic Medicine, UC San Diego; Rui Hou, Guangzhou KangRui Biological Pharmaceutical Technology Company; Xiaoke Hao, Fourth Military Medical University; and the Eye Gene Therapy Consortium.

Funding for this research came, in part, from the Richard Annesser Fund, the Dick and Carol Hertzberg Fund, the National Basic Research Program of China, Hi-Tech Research and Development Program of China, Hon Kong General Research Fund and Early Career Scheme and Shenzhen Science and Technology Fund.

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Using CRISPR to Reverse Retinitis Pigmentosa and Restore Visual ... - Newswise (press release)

Inherited Retinal Disease Patients, Therapy Developers May Benefit From New Genetic Testing Program – GenomeWeb

NEW YORK (GenomeWeb) Genetic testing for inherited retinal diseases is often not covered routinely by health insurance, yet a molecular diagnosis is required for enrollment in a number of clinical trials for new gene- or mutation-specific treatments. To assess the benefit of genetic testing data and to enable more patients to take advantage of it, the Foundation Fighting Blindness has been conducting a pilot research program, providing gene panel testing to 100 members of its My Retina Tracker patient registry free of charge.

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Inherited Retinal Disease Patients, Therapy Developers May Benefit From New Genetic Testing Program - GenomeWeb

Clinical trial results show benefit of brain cancer therapy – Baylor College of Medicine News (press release)

Dr. Nabil Ahmed and Dr. Stephen Gottschalk discuss their investigation of a new treatment option for glioblastoma, the most common brain tumor in humans.

Glioblastoma is the most common brain tumor in humans and also one of the most difficult cancers to treat; patients with this type of cancer only survive about one year from time of diagnosis. Researchers at Baylor College of Medicine, Texas Childrens Cancer Center, and the Center for Cell and Gene Therapy at Baylor, Texas Childrens Hospital and Houston Methodist are investigating a new treatment option using modified T cells with anti-tumor properties with the goal of improving outcomes for patients with glioblastoma.

Their research focuses on engineered T cells that target the protein HER 2 expressed in low levels in glioblastoma cells. Results of a Phase 1 study published in the current issue of JAMA Oncology established the safety of these HER 2-specific, chimeric antigen receptor modified T cells (CAR T cells) when infused in to patients in increasing doses and, importantly, results also showed a clinical benefit to patients.

Our inability to effectively treat glioblastoma has been one of the failures of oncology, said Dr. Nabil Ahmed, associate professor of pediatrics at Baylor, Texas Childrens Cancer Center and the Center for Cell and Gene Therapy and first author of the paper. Glioblastoma is resistant to standard therapy, and it is difficult to remove all of the tumor cells through surgery without damaging the brain, so there is an urgent need for new and better treatment. Our work has focused on immune therapy, because it is very targeted and uses tumor-killing mechanisms that the cancers have not shown resistance to in the lab.

CAR T cells are T cells a type of immune cells involved in the defense against tumors that have been programmed to recognize and kill tumor cells carrying one specific antigen, in this case HER2, on the surface of cancer cells through an artificial molecule, the CAR, expressed on their surface.

The study included 17 pediatric and adult patients with HER 2-positive glioblastoma who received up to five escalating doses of the engineered T cells through intravenous infusions. Establishing the safety of the treatment is important, as other immunotherapy treatment approaches for solid tumors have resulted in significant side effects and toxicities for patients, Ahmed said.

First and foremost, the cells were safe. We did not see any life threatening side effects. Along with this we also saw measurable tumor responses, Ahmed said.

Median survival of patients who participated in the trial was 11.1 months post T cell infusion and 24.5 months from diagnosis. Three patients in the trial experienced no disease progression after more than two years of follow up.

With their promising results, Ahmed and his research colleagues, including Dr. Stephen Gottschalk, professor of pediatrics at Baylor, Texas Childrens Cancer Center and the Center for Cell and Gene Therapy and senior author of the paper, turn their focus to the next steps in the research.

In this phase 1 clinical trial we tested a particular modification that renders these cells specific for HER 2 and while the results have been encouraging, we are very interested to further engineer these cells, for example by making the T cells more effective after the infusion and by targeting not only HER2 but other molecules that are expressed on the cell surface of brain tumors, Gottschalk said.

The CAR T cells are produced in the cell manufacturing facility of the Center for Cell and Gene Therapy. Baylor is one of the few academic institutions that has such a facility, Gottschalk noted.

Others who contributed to this study include Vita Brawley, Meenakshi Hegde, Kevin Bielamowicz, Mamta Kalra, Daniel Landi, Catherine, Robertson, Tara Gray, Oumar Diouf, Amanda Wakefield, Alexia Ghazi, Claudia Gerken, Zhongzhen Yi, Aidin Ashoori, Meng-Fen Wu, Hao Liu, Cliona Rooney, Gianpietro Dotti, Andrea Gee, Jack Su, Yvonne Kew, David Baskin, Yi Jonathan Zhang, Pamela New, Bambi riley, Milica Stojakovic, John Hicks, Suzanne Powell, Malcolm Brenner, Helen Heslop, Roberta Grossman, and Winifred Wels, representing Baylor College of Medicine, Texas Childrens Hospital, Houston Methodist Hospital, and the Institute for Tumor Biology and Experimental Therapy in Frankfurt, Germany.

The study received funding from the Alliance for Cancer Gene Therapy, Cancer Prevention and Research Institute of Texas (RP110553), Alexs Lemonade Stand Pediatric Cancer Foundation, Stand Up to Cancer/St. Baldricks Pediatric Dream Team Translational Research Grant (SU2C-AACR-DT1113), the Clinical Research Center at Texas Childrens Hospital, the Dan L Duncan Institute for Clinical and Translational Research at Baylor, and by shared resources through Dan L Duncan Comprehensive Cancer Center Support Grant from the National Cancer Institute (P30CA125123).

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Clinical trial results show benefit of brain cancer therapy - Baylor College of Medicine News (press release)

Novartis drug development chief outlines CAR-T research commitment – FierceBiotech

Despite reports that linked Novartis to cutting back on its cell therapy work, the Swiss major said it is going full steam ahead for its CAR-T research as a potential approval for its candidate appears on the horizon.

In August of last year,Endpointsbroke the news thatthe Big Pharma was integratingits once standalone gene and cell therapy unit into the company. Most employees would beredeployed, but around 120 potentially face job losses.

This unit was doing work on the next new cancer class CAR-T, but some speculated that the disbanding of this unit meant that Novartis was looking to take a step back from research in this area.

Talk of its death was, however, greatly exaggerated according the the company. It saidits leading CAR-T candidate, CTL019 (tisagenlecleucel), now has two FDA breakthrough tags in two blood cancers, and was given a priority review for the med by the agency at the end of March.

The company is now in a race with biotech Kite Pharma to be the first to market this new type of cancer therapy that has shown some stellar results in clinical trials (although it also has revealedsome serious side effects from other companies, including Juno Therapeutics).

Speaking to FierceBiotech, Vas Narasimhan, M.D., global head of drug development and CMO at Novartis, said that there was a lot of interpretation last year regarding our reintegrating our cell and gene therapy unit into our R&D infrastructure, but was adamant that this did not create any difference in regards to our commitment in this space.

He said the integration of the unit into Novartis proper was primarily due to its success.

We had incubated the technology which came out of [its 2012 CAR-T deal] with Penn as a dedicated unit, and that was something that made sense: If you had immediately put that into the larger infrastructure of Novartis, it would have got lost, especially in the early stages when it was risky and it was unclear if this would be tractable," he said.

But Narasimhan said that as the unit became scaled, the parallel infrastructure scheme no longer made optimal sense.

To give this technology the best chance of succeeding, and in the most cost-effective way, we decided we should integrate [the unit] into our normal operations, and so CAR-T agents were then no different to an I-O agent, or anything else that we developed at Novartis, other than the fact that the process here is very important for the product," he said. We have the scale to work on these sorts of things quickly. So, the integration has allowed us to work on multiple programs in parallel, where I think the unit was focusing on just one or two programs at a time.

Now integrated, Narasimhan said its full steam ahead for CAR-T, and the immediate focus is to see through the two indications: r/r B-cell acute lymphoblastic leukemia (ALL) in pediatric and young adult patients and r/r diffuse large B-cell lymphoma (DLBCL) for tisagenlecleucel this year, as well as a combined ALL and DLCBL submission in Europe in 2017.

On the R&D side, he sees a three-pillar approach for CAR-T. The first pillar is to continue to be innovative on the manufacturing side of things, which is a tricky and cutting-edge science in itself for CAR-T. We need to continue to invest to optimize our manufacturing platforms, bringing it to more patients as we expand indications, he says.

The second is to continue to work in blood cancers, where results for Novartis and others have been the strongest. He said that they have programs in CAR-T in combination with other meds, as well as research in multiple myeloma, with additional blood cancer programs also slated to run on its CAR-T platform.

And the third pillar, which could turn out to be the toughest for all involved, is the move into solid tumors.

We have a few different constructs now and were moving into the clinic, Narasimhan explains. Our most advanced CAR-T is targeting ovarian cancer as well as a few other solid tumors.

Solid tumor research in the industry using CAR-Ts has not to date, however, seen a translation from the strong data coming out of blood cancers, and a lot of uncertainty remains as to whether, and how, CAR-T can treat these types of cancer.

I asked Narasimhan how confident he and Novartis were in holding up its third pillar.

For solid tumors, we really need to wait for the clinical data to make a judgement and see how tractable it is. We know in the solid tumor microenvironment there is a lot more going on, and the question of course will be combination therapies and what kind of I-O combinations might be required to see deep and durable responses in solid tumors," he said."Its too soon to say what our confidence level is in solid tumors, other than to say that we have targets that we are interested in and weve built those constructs and are taking them into the clinic.

One of the big questions surrounding Novartis CAR-T program is the outcome of its JULIET trial for tisagenlecleucel, a study looking at the meds ability in DLCBL (where rival Kite is also working on). The data are in, but Novartis isnt sharing yet.

Our plan with JULIET is to announce it at an upcoming medical event, and once we get acceptance at a congress, well disclose it. We just want to ensure that we dont undermine our ability to present the data to a scientific congress.

But Narasimhan did say that the breakthrough designation it got this week from the FDA hopefully gives some indication, of how the data have panned out.

Lastly, we spoke about the FDA, which is under pressure from all directions as the new administration looks to cut back on regulations and direct funding (with a proposed increase in user fees), and internally, with some questioning whether it has at times lowered its standards to allow drugs through, such as those from Sarepta and more recently Marathon, and if this signals a sea change for the agency.

Narasimhan defended the FDA, saying it should be strong, but that it is under-resourced for what they have to do. If you look at 21st Century Cures Act and all the new things they have to do, the funding isnt necessarily all there yet for those new requirements.

He also saidthat the science and the technology being put up for review is getting more and more complex, and there is public pressure with right to try and patient group pressures as well on the FDA and these are only increasing, so they have to find the right balance."

I would say, in general, that the FDA does an extraordinary job having worked with them for many years, including on the H1N1 pandemic, and through various cycles of innovation. But, I think they need more time and money to invest in their people, so that they are up to speed on the latest science so that they can make measured decisions.

He said that despitethe agency's outlier cases,generally they continue to be very rigorous, in their reviews.

He also said it was incumbent on both the agency and the industry to do more to speed up R&D and approvals, and be open to new, but scientifically-led, approaches that can help get new drugs to patients more quickly.

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Novartis drug development chief outlines CAR-T research commitment - FierceBiotech

Gene therapy for nervous system disorders – The Hippocratic Post – The Hippocratic Post (blog)

My decision to get involved with developing gene therapy for neurological disorders came about because my own daughter, Ornella, 11, was born with a rare genetic condition known as Sanfilippo Syndrome, or mucopolysaccharidosis (MPS-IIIA). One in 70,000 babies is born with this life-limiting condition that results from a genetic mutation of a particular enzyme and leads to toxic build-up of heparan sulphate in brain tissue. Heparan sulphate is necessary for the normal function of the brain, but too much can damage tissue.

Heparan sulphate is necessary for the normal function of the brain, but too much can damage tissue.

At present, there is no cure, treatment is palliative and sufferers die in their early teens. Symptoms range from mild developmental delay and hyperactivity, which leads to sleep disturbance to more profound problems, such as paralysis, usually before the child reaches his or her 10th birthday.

Five years ago, Ornella became the first person in the world to have an experimental new drug treatment that we are developing at Lysogene, the biotech company I founded with Olivier Danos, a leading researcher into neurodegenerative disease. He had already been looking into this area of research and was keen to look at novel approaches.

She was part of a Phase 1/2 clinical trial that took place in 2011 and 2012 to gauge the safety of gene therapy using an adeno-associated viral vector known as AAVrH10 to deliver a genetically modified N-sulfoglucosamine sulfohydrolase enzyme directly into the brain cells. This enzyme effectively mops up the excess heparan sulphate and disposes of it. Animal studies had already shown it was safe and effective. The four children involved ranged in age from just under 3 years old to just under seven years old and they were dosed individually, one after the other, over three month intervals. The vector is injected into areas of the brain that show signs of damage during an operation under general anesthesia

AAVrH10 is a viral vector that is able to move into brain cells more efficiently where it delivers the drug. Other AAV vectors have been investigated by other research teams but with less effective uptake of gene therapy in the brain. All AAV vectors are very safe and stable so they are long-lasting. They also seem to cause no harmful effects in brain tissue.

All AAC vectors are very safe and stable so they are long-lasting.

This is a very elegant solution to a problem that is very localised in MPS-IIIA patients. The vector delivers the drug directly to the neurons where it is needed. It is also a once-only therapy because it fixes the faulty DNA of the enzyme permanently. Sadly, many children with genetic diseases need to have regular therapy, which often requires a hospital visit several times a month. This kind of gene therapy should mean that there is no need to repeat it more than once.

Im glad to say that the trial, which only included human patients with advanced disease, was a success and the results were published in Human Gene Therapy in 2014. As well as being safe, the therapy resulted in reduction in symptoms and a big increase in quality of life. Ornella showed tremendous improvement and started sleeping through the night something that had never happened from the day she was born until she was treated at six years old. We are hopeful that the therapy may also have the ability to extend life for patients with this disease. Certainly, this is what we observed in early animal studies. Potentially, it may even be curative.

Without such promising results, there was no way that I could consider continuing with the research programme. If I had not been convinced of its efficacy and safety, I would have called a halt after the initial trials.

We are now preparing to embark on a larger scale Phase 3 clinical trial with 20 patients in all. This will take place in 2018. If all goes well, we hope to market the drug to patients by 2020. I feel really blessed and proud to be involved in such an important project and to part of such a great team at Lysogene.

Karen Aiach is speaking at the RSM Medical Innovations summit on April 22nd. http://www.rsm.ac.uk

Karen Aiach is CEO and founder of Lysogene, a biotech company developing gene therapy for central nervous system disorders.

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Gene therapy for nervous system disorders - The Hippocratic Post - The Hippocratic Post (blog)

Team characterizes the underlying cause of a form of macular degeneration – Medical Xpress

April 19, 2017 by Katherine Unger Baillie The Penn-led research team characterized the underlying mechanism that leads to the blinding Best disease; a loss of the microvilli that support and "feed" photoreceptor cells. The contrast can be seen above, with a normal retina on the right and an affected on on the left. Credit: University of Pennsylvania

Named for Friedrich Best, who characterized the disease in 1905, Best disease, also known as vitelliform macular dystrophy, affects children and young adults and can cause severe declines in central vision as patients age. The disease is one in a group of conditions known as bestrophinopathies, all linked to mutations in the BEST1 gene. This gene is expressed in the retinal pigment epithelium, or RPE, a layer of cells that undergirds and nourishes photoreceptor cells, the rods and cones responsible for vision.

Despite the century of work on bestrophinopathies and the identification of genetic mutations responsible for the conditions, no one had identified the underlying mechanism that led to the vision loss seen in Best disease until now.

Using an animal model of Best disease in combination with biochemical and optical assays, a team of researchers at the University of Pennsylvania has pinpointed a number of abnormalities that give rise to the impairments seen in the disease.

"The genetic cause of the disease has been known for 20 years, but no one had samples of patients at the stage when the disease starts," said Karina E. Guziewicz, research assistant professor of ophthalmology in Penn's School of Veterinary Medicine and lead author on the study. But "we were now able to pinpoint this early stage and find out what factors trigger the development of lesions."

The new information sets the team up for testing a gene therapy to treat the disease, as the researchers will be able to observe whether or not these structural and biochemical abnormalities have been corrected.

"Now that we understand what we're seeing, it allows us to judge the success of a particular therapy," said Gustavo D. Aguirre, professor of medical genetics and ophthalmology at Penn Vet.

Kathleen Boesze-Battaglia, a professor in the Department of Biochemistry in Penn's School of Dental Medicine, also contributed her expertise in lipid biochemistry and spectral analysis of lipid debris to the study, which was published in the journal Progress in Retinal and Eye Research, the top ranked journal in the eye-research field.

"Interestingly, the lipid debris accumulation is similar to cholesterol rich plaque formation, compounded by a complexity of vitamin A metabolism," said Boesze-Battaglia. "Alterations in lipid metabolism likely contribute to the secondary disease pathology in this model."

The main puzzle surrounding Best disease was why, despite the BEST1 gene being mutated in the RPE throughout the retina, vision loss struck the macula and fovea, the central areas of the retina responsible for reading and tasks requiring high-resolution vision, while seeming to spare the rest. Researchers had observed lesions in this area, but it was unknown why they developed.

In this study, the Penn-led team discovered that this predilection of the macula to develop lesions has to do with differences in the supporting structures of rods versus cones.

Rods, which make up more than 90 percent of photoreceptor cells in the retina and are responsible for dim-light vision, have a cluster of supporting structures known as RPE microvilli that cup the cell like stakes holding up a plant. In contrast, cones, the color-sensing photoreceptors that make up 3 to 5 percent of all photoreceptors but are overrepresented in the macula, are engulfed in a sheath of microvilli. In addition, cones are supported by an insoluble matrix.

Examining cross-sections of the fovea-like region in the canine macula of dogs affected with the canine equivalent of Best disease, the researchers found that the microvilli don't form and that the matrix is fragmented. The susceptibility of the macula is due to the fact that cones are the predominant cell type there and rely on the matrix for support and nutrient exchange.

"We were not expecting to find such dramatic structural abnormalities," Guziewicz said. "For a hundred years, this has been thought to be a disease of the RPE, but we have now identified this as a disease of the RPE-photoreceptor interface."

"The RPE provides transport of nutrients to the cones and engulfs the discarded part of cones and rods," said Aguirre. "When you lose the matrix, you lose the connection between those cells and the RPE and that leads to disease."

To determine if the same would be true in humans, the researchers looked at human induced pluripotent stem cell-derived RPE from Best disease patients and found similar signatures: microvilli numbers were decreased in length and density. These experiments were conducted in collaboration with David Gamm's laboratory from the McPherson Eye Research Institute at the University of Wisconsin-Madison.

Looking ahead, the research team would like to continue to probe the biochemical signals that lead to the improper development of the microvilli and matrix and push ahead with developing and testing a gene-therapy approach to treating bestrophinopathies.

"Knowing where the disruptions occur will allow us to develop proper outcome measures for a gene therapy, which is in the works," said Guziewicz.

Explore further: Fighting blindness: Scientists bring a key protein into focus

More information: Karina E. Guziewicz et al, Bestrophinopathy: An RPE-photoreceptor interface disease, Progress in Retinal and Eye Research (2017). DOI: 10.1016/j.preteyeres.2017.01.005

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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 ...

Vitelliform macular dystrophy, also known as Best disease, is one of a group of vision-robbing conditions called bestrophinopathies that affect children and young adults. Caused by inherited mutations in the BEST1 gene, these ...

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Three years ago, a team from the University of Pennsylvania announced that they had cured X-linked retinitis pigmentosa, a blinding retinal disease, in dogs. Now they've shown that they can cure the canine disease over the ...

Named for Friedrich Best, who characterized the disease in 1905, Best disease, also known as vitelliform macular dystrophy, affects children and young adults and can cause severe declines in central vision as patients age. ...

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The new chemical composition of the legal high 'poppers' is linked to retinal damage at the back of the eye, finds a small study published online in the British Journal of Ophthalmology.

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Quinnipiac president to receive new award from Stamford nonprofit – The Advocate

Quinnipiac University President John Lahey is the recipient of the Stamford-based Alliance for Cancer Gene Therapys first Edward Netter Award for Business and Industry.

Quinnipiac University President John Lahey is the recipient of the Stamford-based Alliance for Cancer Gene Therapys first Edward Netter Award for Business and Industry.

Quinnipiac president to receive new award from Stamford nonprofit

STAMFORD Outgoing Quinnipiac University President John Lahey ranks at the top of the class for his community service, according to the leaders of one of Stamfords major nonprofits.

The Alliance for Cancer Gene Therapy, which supports the development of cell and gene therapies for cancer, will recognize Lahey on Wednesday at its anniversary gala at the Harvard Club in Manhattan with the first Edward Netter Award for Business and Industry.

ACGT officials said Lahey, an ACGT board member since 2004, embodies the qualities valued by the late ACGT co-founder Edward Netter: intellect, creativity, tenacity, curiosity and compassion.

Im deeply honored to receive the first-ever Edward Netter Award for Business and Industry, Lahey said. Edward was a true visionary. He and his wife Barbara have made such an impact in this area of research. Im delighted that Ive been able to be a part of ACGT and help see their vision of successfully treating cancer advance so quickly.

ACGT co-founder and honorary chairman Barbara Netter will present the award to Lahey.

Im so thrilled to honor Dr. John Lahey, Netter said in a statement. He has worked closely with Edward and me over the years to guide ACGT and to fund some of the most innovative and breakthrough cancer research in decades. I know Edward would be extremely proud to know what ACGT has been able to accomplish these years under the stewardship of John Lahey.

Lahey is the eighth president of Quinnipiac. After arriving at the Hamden institution in 1987, Lahey started a planning process that resulted in the growth of student enrollment from 2,000 to nearly 10,000. He also expanded Quinnipiac from a college to a university, which offers more than 100 programs in its nine schools and colleges.

Last week, he announced his intention to retire next year.

Among the other gala speakers, ACGT research fellow Dr. Robert Vonderheide, of the University of Pennsylvania will discuss breakthroughs using immunotherapy for the treatment of solid cancers. Doug Olson will talk about his experience as one of the first three patients treated in the cancer immunotherapy CAR-T clinical trial developed by ACGT research fellow and Scientific Advisory Council member Dr. Carl June.

Since its founding in 2001, ACGT has provided nearly $27 million in funding for cancer cell, gene and immunotherapy research in North America. ACGT officials said the nonprofit has supported the underlying science that has led to the founding of four companies in the final stages of bringing new treatments to patients: Novartis, Ziopharm, Juno Therapeutics and Turnstone Biologics.

pschott@scni.com; 203-964-2236; twitter: @paulschott

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Quinnipiac president to receive new award from Stamford nonprofit - The Advocate

Gene Therapy Technologies, Markets and Companies Report 2017 … – GlobeNewswire (press release)

April 17, 2017 09:48 ET | Source: Research and Markets

Dublin, April 17, 2017 (GLOBE NEWSWIRE) -- Research and Markets has announced the addition of Jain PharmaBiotech's new report "Gene Therapy - Technologies, Markets and Companies" to their offering.

Gene therapy technologies are described in detail including viral vectors, nonviral vectors and cell therapy with genetically modified vectors. Gene therapy is an excellent method of drug delivery and various routes of administration as well as targeted gene therapy are described. There is an introduction to technologies for gene suppression as well as molecular diagnostics to detect and monitor gene expression.

Clinical applications of gene therapy are extensive and cover most systems and their disorders. Full chapters are devoted to genetic syndromes, cancer, cardiovascular diseases, neurological disorders and viral infections with emphasis on AIDS. Applications of gene therapy in veterinary medicine, particularly for treating cats and dogs, are included.

Research and development is in progress in both the academic and the industrial sectors. The National Institutes of Health (NIH) of the US is playing an important part. As of 2015, over 2050 clinical trials have been completed, are ongoing or have been approved worldwide.A breakdown of these trials is shown according to the geographical areas and applications.

Gene therapy markets are estimated for the years 2016-2026. The estimates are based on epidemiology of diseases to be treated with gene therapy, the portion of those who will be eligible for these treatments, competing technologies and the technical developments anticipated in the next decades. In spite of some setbacks, the future for gene therapy is bright.The markets for DNA vaccines are calculated separately as only genetically modified vaccines and those using viral vectors are included in the gene therapy markets

Profiles of 187 companies involved in developing gene therapy are presented along with 232 collaborations. There were only 44 companies involved in this area in 1995. In spite of some failures and mergers, the number of companies has increased more than 4-fold within a decade. These companies have been followed up since they were the topic of a book on gene therapy companies by the author of this report. John Wiley & Sons published the book in 2000 and from 2001 to 2003, updated versions of these companies (approximately 160 at mid-2003) were available on Wiley's web site. Since that free service was discontinued and the rights reverted to the author, this report remains the only authorized continuously updated version on gene therapy companies.

Key Topics Covered:

Part I: Technologies & Markets

0. Executive Summary

1. Introduction

2. Gene Therapy Technologies

3. Clinical Applications of Gene Therapy

4. Gene Therapy of Genetic Disorders

5. Gene Therapy of Cancer

6. Gene Therapy of Neurological Disorders

7. Gene Therapy of Cardiovascular Disorders

8. Gene therapy of viral infections

9. Research, Development and Future of Gene Therapy

10. Regulatory, Safety, Ethical Patent Issues of Gene Therapy

11. Markets for Gene Therapy

12. References

Part II: Companies

13. Companies involved in Gene Therapy

For more information about this report visit http://www.researchandmarkets.com/research/d5gdwq/gene_therapy

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WSU sleep researchers discover why some people may toss and turn more than others – The Spokesman-Review

UPDATED: Fri., April 14, 2017, 10:04 p.m.

Elson S. Floyd College of Medicine assistant research professor Jason Gerstner leads the research team studying fruit flies brains and sleep patterns. (Dan Pelle / The Spokesman-Review)

A research team led by a Washington State University biochemist could help scientists shed light on why we need to sleep, and why some people have an easier time resting than others.

Jason Gerstner, a research assistant professor at WSUs Elson S. Floyd College of Medicine, found that mutations in a sleep gene in the brain can cause humans, mice and fruit flies to have less restful sleep.

The results of the study were published in a peer-reviewed article in the journal Science Advances earlier this month.

It might sound odd, but scientists still arent sure why sleep is necessary. One theory is that sleep helps with memory formation and the brains growth and change: what scientists call neuroplasticity. Other theories maintain that sleep is restorative for the body and that it lowers metabolism, helping to conserve energy.

We still dont fully understand what biological function sleep is serving, Gerstner said. One of the ways we can get at answering that question is through examining neurobiological pathways.

Much of Gerstners research has focused on a particular gene, FABP7, thats been linked to sleep function. In previous research, Gerstner saw the genes expression cycles naturally during the day in mice, mirroring sleep-wake cycles.

For this study, Gerstners team looked at a sleep study of Japanese men, some of whom had a naturally occurring mutation in their FABP7 gene. Men with the mutation slept about as long as men without it, but their sleep was more fitful, with more bouts of time spent awake during the night.

Men with the mutation also reported more symptoms indicating clinical depression on an assessment, though neither group scored high enough to meet the criteria for depression. Gerstner said that suggests either the gene mutation itself or sleep disturbance might be linked to depression in some way.

There were no significant differences in health, age or sleepiness between the two groups of men.

The study showed similar restlessness in rats that had their FABP7 genes knocked out and in genetically engineered fruit flies with the same gene mutation. Because the mutation works the same way across species, its a promising finding for future research, and even for treatment of sleep disorders.

The FABP7 mutation causes the gene to create a different protein sequence. That affects which other proteins in the brain the sequences bind to, which in turn can influence a broad range of functions, like gene expression, inflammation and other brain functions.

The researchers also found the specific part of the brain, a star-shaped cell called an astrocyte, where FABP7 plays a role in sleep.

Previously, those cells were thought to be support cells for neurons, Gerstner said. Now, scientists are learning theyre important in their own right.

This is some of the earliest evidence that astrocytes really play a role in sleep, said Isaac Perron, a doctoral student in neurobiology at the University of Pennsylvania who worked with mice in the experiment.

Perrons interest is in sleep and nutrition. Because the proteins coded by FABP7 bind with fatty acids like omega-3s, he thinks the gene might be a link in showing how the fatty acids we eat can influence brain functions, including sleep.

Jerry Yin, a professor of genetics at the University of Wisconsin-Madison, who worked on the fruit fly portion of the research, said finding a common pathway like FABP7 helps people looking at medications or gene therapies target their treatments.

Knowing FABP7 works in astrocytes helps researchers tailor their focus, since those cells are where youre likely to have an effect manipulating this gene, Yin said.

Testing a therapy or medication is also easier because the FABP7 impact on sleep works in fruit flies and mice, both of which are commonly used in research.

Since weve narrowed down particular protein expressed within astrocytes, it underscores the importance of these cells in regulating complex behavior across species, Gerstner said.

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UMN research reprograms immune system to fight cancer – Minnesota Daily

University of Minnesota researcher Perry Hackett, calls his breakthrough in using DNA to fight cancer one of the grandest Minnesota fishing stories ever.

Hackett, a professor of cell biology and genetics at the University, was given the Impact Award last month for inventing the Sleeping Beauty Transposon system a basis for many cancer-fighting immunotherapies.

Though Hacketts scientific journey began nearly 40 years ago when he was tasked with genetically engineering larger fish, his more recent work can reprogram a persons immune system to fight cancer by introducing a gene into a cell that will recognize foreign cells in the body.

Your immune system has memory, and it can target specific things that are bad, he said. It does so by targeting virus-infected cells and things like that.

Transposons are DNA that are not uniform throughout an organism a concept easily seen in Indian corn, where the kernels are multicolored because a DNA element is hopping around the corn genome.

Its named Sleeping Beauty because it was a gene that was active 13 million years ago but went extinct, Hackett said.

Because this system does not use viruses like other cancer treatments, Hackett said he and his team of three other University faculty members were awarded a grant to research using the system for human gene therapy.

The problem with viruses is theyre expensive to make, they take a long time to get and theyre very costly to purify, he said.

But the Sleeping Beauty Transposon is simple enough for an undergraduate student to make. Thats how trivial this technology is, he said.

The transposons history starts when Hackett accepted a job at the University in 1980 to study retroviruses. He said there were few restrictions on researchers and what they could do in the lab.

He and his colleagues were making mutations in cancer viruses and were not paid much attention.

A couple of my friends came to me and said, You know how to genetically engineer stuff. We want to make big fish, he said, adding that the governor at the time, Rudy Perpich, had asked someone from the medical school how it could help the fishing industry.

Hackett received money from the state and other organizations and successfully created faster-growing fish, but he said many environmentalists at the time were concerned about modified fish being in nature.

Though fish in Minnesota years ago were naturally larger and the fish population worldwide is decreasing rapidly, Hackett said the engineered fish never made it out into the wild.

All the lakes here in Minnesota are feeling pressure, he said. I would say that there now is a global fisheries crisis due to people called environmentalists and people called conservationists. The result is that the natural animal population cant keep up.

While Hackett and his teams engineered fish project came to a halt, he said they made the procedure used on the fish more efficient and eventually came up with a new transposon system.

In the early 2000s, the team merged with the Genetic Cell Biology and Development Department, which was new at the time, and started investing in transposons and gene therapy.

He said viruses have been used in the past to improve the immune system, but a few years ago immunotherapy became the focus.

Fundamentally, its a fishing story, Hackett said of creating the transposon system. "It is one of the grandest Minnesota fishing stories ever. You start to find a way to improve the lives of fishermen and you wind up with a cutting-edge tool to treat cancer.

Dan Voytas, a genetics, cell biology and development professor and the director of the Center for Genome Engineering, said he took a job at the University in 2008 partly because of Hacketts work in genetics.

Voytas said he first met Hackett shortly after the transposon discovery was made.

Part of the motivation for the move was certainly my excitement about working with professors at the University of Minnesota who are interested in editing [and] modifying DNA in cells, he said.

Voytas sees the Sleeping Beauty Transposon System as Hacketts greatest contribution to the University.

It has many applications, he said. Its been helpful in understanding how cancer progresses. Its been important to correct genetic diseases that people inherit. More recently its been important in turning our immune systems against cancer.

Voytas said the recent immune system discovery was commercially licensed in the last year and a half. Since Hacketts discovery, he said there have been other developments that allow DNA to be more precisely edited.

The Center for Genome Engineering implements other peoples systems into editing human, animal and plant genes, Voytas said.

He added that in the future, therapies based on Hacketts transposon system could eliminate or correct the symptoms of inherited diseases.

Its the therapeutic outcomes of that technology that people will appreciate and recognize, he said.

Allen Levine, the Universitys interim vice president for research and a member of the committee that awarded Hackett, said he was given the award in March because of his discovery and use of the Sleeping Beauty Transposon system.

Ive heard a lot about [Hackett] over the years, Levine said. The work that he has done has had a major impact in terms of cancer therapies.

Levine said most cancer therapies, which are relatively new, look to change the immune system to attack only cancer cells. He said 80 percent of people who use this technology have complete recovery or remission of cancer.

The University will keep on working in these arenas, he said. We want to reward that innovative thinking. I always say that genius is the recognition of the accident."

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Gene Therapy and Children (For Parents) – KidsHealth

Gene therapy carries the promise of cures for many diseases and for types of medical treatment that didn't seem possible until recently. With its potential to eliminate and prevent hereditary diseases such as cystic fibrosis and hemophilia and its use as a possible cure for heart disease, AIDS, and cancer, gene therapy is a potential medical miracle-worker.

But what about gene therapy for children? There's a fair amount of risk involved, so thus far only seriously ill kids or those with illnesses that can't be cured by standard medical treatments have been involved in clinical trials using gene therapy.

As those studies continue, gene therapy may soon offer hope for children with serious illnesses that don't respond to conventional therapies.

Our genes help make us unique. Inherited from our parents, they go far in determining our physical traits like eye color and the color and texture of our hair. They also determine things like whether babies will be male or female, the amount of oxygen blood can carry, and the likelihood of getting certain diseases.

Genes are composed of strands of a molecule called DNA and are located in single file within the chromosomes. The genetic message is encoded by the building blocks of the DNA, which are called nucleotides. Approximately 3 billion pairs of nucleotides are in the chromosomes of a human cell, and each person's genetic makeup has a unique sequence of nucleotides. This is mainly what makes us different from one another.

Scientists believe that every human has about 25,000 genes per cell. A mutation, or change, in any one of these genes can result in a disease, physical disability, or shortened life span. These mutations can be passed from one generation to another, inherited just like a mother's curly hair or a father's brown eyes. Mutations also can occur spontaneously in some cases, without having been passed on by a parent. With gene therapy, the treatment or elimination of inherited diseases or physical conditions due to these mutations could become a reality.

Gene therapy involves the manipulation of genes to fight or prevent diseases. Put simply, it introduces a "good" gene into a person who has a disease caused by a "bad" gene.

The two forms of gene therapy are:

Currently, gene therapy is done only through clinical trials, which often take years to complete. After new drugs or procedures are tested in laboratories, clinical trials are conducted with human patients under strictly controlled circumstances. Such trials usually last 2 to 4 years and go through several phases of research. In the United States, the U.S. Food and Drug Administration (FDA) must then approve the new therapy for the marketplace, which can take another 2 years.

The most active research being done in gene therapy for kids has been for genetic disorders (like cystic fibrosis). Other gene therapy trials involve children with severe immunodeficiencies, such as adenosine deaminase (ADA) deficiency (a rare genetic disease that makes kids prone to serious infection), sickle cell anemia, thalassemia, hemophilia, and those with familial hypercholesterolemia (extremely high levels of serum cholesterol).

Gene therapy does have risks and limitations. The viruses and other agents used to deliver the "good" genes can affect more than the cells for which they're intended. If a gene is added to DNA, it could be put in the wrong place, which could potentially cause cancer or other damage.

Genes also can be "overexpressed," meaning they can drive the production of so much of a protein that they can be harmful. Another risk is that a virus introduced into one person could be transmitted to others or into the environment.

Gene therapy trials in children present an ethical dilemma, according to some gene therapy experts. Kids with an altered gene may have mild or severe effects and the severity often can't be determined in infants. So just because some kids appear to have a genetic problem doesn't mean they'll be substantially affected by it, but they'll have to live with the knowledge of that problem.

Kids could be tested for disorders if there is a medical treatment or a lifestyle change that could be beneficial or if knowing they don't carry the gene reduces the medical surveillance needed. For example, finding out a child doesn't carry the gene for a disorder that runs in the family might mean that he or she doesn't have to undergo yearly screenings or other regular exams.

To cure genetic diseases, scientists must first determine which gene or set of genes causes each disease. The Human Genome Project and other international efforts have completed the initial work of sequencing and mapping virtually all of the 25,000 genes in the human cell. This research will provide new strategies to diagnose, treat, cure, and possibly prevent human diseases.

Although this information will help scientists determine the genetic basis of many diseases, it will be a long time before diseases actually can be treated through gene therapy.

Gene therapy's potential to revolutionize medicine in the future is exciting, and hopes are high for its role in ;curing and preventing childhood diseases. One day it may be possible to treat an unborn child for a genetic disease even before symptoms appear.

Scientists hope that the human genome mapping will help lead to cures for many diseases and that successful clinical trials will create new opportunities. For now, however, it's a wait-and-see situation, calling for cautious optimism./p>

Date reviewed: April 2014

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Gene Therapy and Children (For Parents) - KidsHealth

Success of sensory cell regeneration raises hope for hearing restoration – Science Daily


Science Daily
Success of sensory cell regeneration raises hope for hearing restoration
Science Daily
In an apparent first, St. Jude Children's Research Hospital investigators have used genetic manipulation to regenerate auditory hair cells in adult mice. The research marks a possible advance in treatment of hearing loss in humans. The study appears in ...

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Success of sensory cell regeneration raises hope for hearing restoration - Science Daily

Prosper nonprofit holds fundraiser to help research cure for Hunter Syndrome – Nueces County Record Star

By Paulina De Alva, Prosper Press

The fifth annual Dancing With Dominic fundraiser, which benefits the research to find a cure for Hunter Syndrome, was hosted on Saturday, April 1, 2017 at Hughes Elementary School by the Henriquez family, whose 7-year-old son Dominic was diagnosed with the disease in October of 2011, when he was 22 months old.

The event included a dance in the gymnasium, performances by Prosper ISDs dance teams, face painting by the art students, a catered dinner, a silent auction, a raffle, kids activities and crafts, a photo booth and other activities for all the families.

Dominics mother, Jeanette Espinola, said she is incredibly thankful for the amount of community support shes seen during the planning process, and that the event was made possible all because of the help and support of the community of Prosper. She added that about 15 or 16 families from different parts of the country who have been affected by the disease attended the event.

We had a family gathering in conjunction with the event, she said. Because theres so few of us, were a very close community.

Hunter Syndrome, or Mucopolysaccharidosis Type II (MPS II), is a rare genetic disorder affecting 1 in 150,000 males that slowly destroys the bodys cells due to a missing enzyme, which results in the accumulation of cellular waste throughout the body. It is a progressive and life-limiting disease that mainly affects young boys, and the prognosis is that the children wont live past their teenage years. Espinola said it was a devastating diagnosis for her family.

All of a sudden you lose basically all your dreams that you had for your child, Espinola said. You were going to see him grow up, see him become an adult. But he may not make it past his teenage years.

She said the way she dealt with it was to do what she loves to do and plan to host a big fundraiser party along with her husband, who is a DJ, and with the help of the community in Virginia, where they lived before they moved to Prosper. Dominic loves to dance, so that party in 2012 became the first Dancing With Dominic event.

It was our way of contributing and helping find a cure, and bringing awareness, Espinola said. I think thats the other huge piece of it, is bringing awareness that there are these disorders, there are these kids, and that there is this potential right now to really help them, and the research is pretty much there, we just need the funds right now.

Dominics parents, Jeanette Espinola and Freddy Henriquez, founded the Hunter Syndrome Foundation in 2013, after having hosted already two Dancing With Dominic events, for the specific purpose of funding potential treatments and research and ultimately finding a cure for the disease.

There is one approved treatment for Hunter Syndrome. It consists of an infusion of the man-made version of the enzyme Dominic is missing, which is administered through a four-hour weekly IV treatment that prevents the disease from progressing fast. The medicine he gets, called Elaprase, costs about $12,000 per week, amounting to around half a million dollars per year, and is the second most expensive medicine in the country.

Hes been getting that for five years now since he was diagnosed, Espinola said. But the issue with that is that it doesnt cross into his brain. So he could still lose his cognitive skills, he could still begin regressing.

Its not a complete treatment, so for the past two years hes been in a clinical trial in Chicago where hes getting the enzyme to his brain. It helps in slowing down the progression of the disease in his brain.

Researchers have been searching for a permanent cure, so gene therapy is the next step they are working toward. The gene therapy research for Hunter Syndrome is led by two doctors, Douglas McCarty, Ph.D., and Haiyan Fu, Ph.D. at Nationwide Childrens Hospital in Columbus, Ohio. All of the Hunter Syndrome Foundation funds have benefited their work to find a cure. Dr. McCarty said the gene therapy for MPS II is the result of more than a decade of collaborative research efforts with support from MPS II patient family foundations.

This gene therapy approach targets the root cause of MPS II by delivering the correct gene using a vector that can cross the blood-brain-barrier, McCarty said. Our preclinical data have shown great promise with lifelong benefits. We believe that we are well positioned to move forward towards a phase 1/2 clinical trial in patients with MPS II.

The vector for the gene therapy will cost $1.4 million to produce, and it will cost another million dollars to begin the clinical trials. The family donates the money raised from the yearly Dancing with Dominic event to the Hunter Syndrome Foundation, and through it, 100 percent of the funding goes toward the doctors research at Nationwide Childrens Hospital so they can find a cure.

Im not doing this by myself, there are families throughout the country who are also raising funds, Espinola said. So all of the families efforts put together throughout the country have raised over $500,000 so far to help the doctors in their research.

Espinola said she hopes the family-led efforts are able to fully fund the clinical trials for gene therapy and for some normalcy for her son, Dominic, in the future.

I hope that Dominic continues to do well and better treatments are found, she said. Maybe one day he can be an adult and lead somewhat of an independent life.

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Prosper nonprofit holds fundraiser to help research cure for Hunter Syndrome - Nueces County Record Star

Gene Therapy May Help Those With Hearing Loss – Healthline

Researchers may have brought us one step closer to gene therapy for the treatment of hearing loss, after discovering a way to regenerate auditory hair cells in mice.

It is estimated that about 15 percent of adults in the United States have some form of hearing loss, with men being twice as likely to develop the condition than women.

Damage to the auditory hair cells is one of the leading causes of hearing loss.

Aging is a common risk factor for such damage, although the ailment can also arise through prolonged exposure to loud noise, injury (such as head trauma), ear infections, and other illnesses and diseases.

Auditory hair cells are the tiny sensory cells of the cochlea the inner part of the ear that enable us to hear.

These cells consist of hair-like projections, called stereocilia, that are responsible for transforming sound vibrations into electrical signals that are sent to the brain.

In humans, auditory hair cells are unable to regenerate in order to replace damaged ones. In fish and birds, however, these cells can regenerate.

The process involves down-regulating expression of the protein p27 and up-regulating the expression of the protein ATOH1, notes study co-author Jian Zuo, Ph.D., of the Department of Developmental Neurobiology at St. Jude Childrens Research Hospital in San Francisco.

For their study published today in the journal Cell Reports Zuo and team set out to determine whether they could trigger the same process in mice.

Read More: Get the facts on age-related hearing loss

Using genetic manipulation, the researchers deleted the p27 protein and increased ATOH1 expression in mice.

When the mice experienced auditory hair cell damage as a result of exposure to loud noise, the researchers found that the cells supporting the auditory hair cells began to transform into auditory hair cells themselves.

Further investigation revealed that a number of proteins work together in order to regenerate auditory hair cells.

The researchers found that the deletion of p27 increased levels of a protein called GATA3 and boosted the expression of the POU4F3 protein. This increased ATOH1 expression, leading to auditory hair cell regeneration in the rodents.

The researchers explain that ATOH1 is a transcription factor required for the development of auditory hair cells. In humans, the production of ATOH1 stops in the womb.

According to Zuo and colleagues, however, their findings suggest that it may be possible to reactivate ATOH1 production in humans by genetically manipulating the p27, GATA3, and POU4F3 proteins.

Work in other organs has shown that reprogramming cells is rarely accomplished by manipulating a single factor," said Zuo. "This study suggests that supporting cells in the cochlea are no exception and may benefit from therapies that target the proteins identified in this study."

The researchers now plan to conduct a phase I clinical trial that will involve using gene therapy to reinstate ATOH1 production in humans.

The aim is to determine whether such a strategy can trigger auditory hair cell regeneration in humans, and whether this might be an effective treatment for hearing loss.

"Work continues to identify the other factors, including small molecules, necessary to not only promote the maturation and survival of the newly generated hair cells, but also increase their number," said Zuo.

Read More: What? Hearing loss expected to rise dramatically

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Gene Therapy May Help Those With Hearing Loss - Healthline

Scientists Find New Way to Fight HIV at Scripps Research Institute – NBC Southern California

Member-tethered, receptor-blocking antibodies protect cells from rhinovirus.

A new approach to treating AIDS was discovered by scientists at the Scripps Research Institute (TSRI).

Scientists have found a way to stick HIV-fighting antibodies to immune cells, which may foster a cell population resistant to the virus.

The experiments under lab conditions show resistant cells can quickly replace diseased cells under lab conditions, which shows the potential to cure a person with HIV, according to TSRI.

"This protection would be long term," said Jia Xie, senior staff scientist at TSRI and the first author of the study. It was published Monday in the journal Proceedings of the National Academy of Sciences.

Richard Lerner, M.D., Lita Annenberg Hazen Professor of Immunochemistry at TSRI, led the study. The researchers will work with investigators at City of Hope's Center for Gene Therapy to investigate this new therapy as a potential treatment for HIV.

They will evaluate the treatment with safety tests as required by federal regulations.

"City of Hope currently has active clinical trials of gene therapy for AIDS using blood stem cell transplantation, and this experience will be applied to the task of bringing this discovery to the clinic," said John A. Zaia, M.D., director of the Center for Gene Therapy, in a statement.

"The ultimate goal will be the control of HIV in patients with AIDS without the need for other medications," said Zaia.

A significant new advantage with this treatment is that antibodies hang onto a cell's surface, blocking HIV from accessing a crucial cell receptor and spreading infection, according toTSRI.

This is really a form of cellular vaccination, said Lerner.

Antibodies recognize the CDR4 binding site, which allows them to block HIV from attacking a critical receptor in the cell. Scientists say this technique can produce an HIV-resistant population of cells.

Published at 7:14 PM PDT on Apr 10, 2017 | Updated at 7:15 PM PDT on Apr 10, 2017

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Scientists Find New Way to Fight HIV at Scripps Research Institute - NBC Southern California

Brain cells reprogrammed to make dopamine, with goal of Parkinson’s therapy – The San Diego Union-Tribune

In a pioneering study, European scientists have reprogrammed brain cells in mice to correct some of the movement disorders of Parkinsons disease.

The scientists also demonstrated the reprogramming in human brain cells grown in cultures.

In both mice and human cell cultures, the procedure converted brain cells called astrocytes into cells that produce dopamine, a neurotransmitter necessary for movement. Dopamine-making neurons are destroyed in Parkinsons disease; so replacing them should alleviate symptoms.

Like all biomedical research, this approach will require more development and testing before it can be considered for treating actual patients.

The study was published Monday in Nature Biotechnology. Pia Rivetti di Val Cervo was first author, and Ernest Arenas was senior author. Both are of Karolinska Institute in Stockholm, Sweden.

The study can be found online at j.mp/astropark.

Researchers worked on mice that had had their dopamine-making neurons destroyed. They used a viral delivery system to transmit three genes to the astrocytes that reprogrammed some of them into dopamine-making cells.

The next steps to be taken toward achieving this goal include improving reprogramming efficiency, demonstrating the approach on human adult striatal astrocytes, developing systems to selectively target human striatal astrocytes in vivo, and ensuring safety and efficacy in humans, the study concluded.

The study is a more sophisticated version of gene therapy approaches that have previously been investigated for Parkinsons, and is worth pursuing, said Parkinsons disease researcher Andres Bratt-Leal. However, much more work needs to be done before it can be considered for patients, he said. Meanwhile, other therapeutic projects are much closer to clinical testing.

Bratt-Leal is involved in one of those projects, a San Diego-based initiative to reprogram skin cells from Parkinsons patients into embryonic-like cells called induced pluripotent stem cells, and then mature them into the dopamine producing neurons. These neurons will then be implanted into the brains of the patients, if work by the Summit for Stem Cell Foundation succeeds.

Implanting new neurons has shown tremendous promise in animal models and clinical trials using dopamine-producing neurons derived from embryonic stem cells or induced pluripotent stem cells are going to start in the next 1 to 2 years, said Bratt-Leal, the foundations director of research. Gene therapy is promising, but there remain a lot of questions before it is ready for clinical trial.

In a dish, only a fraction of the cells are successfully made into cells which resemble dopamine-producing neurons, Bratt-Leal said. I'd like to know what happens to all the other cells which don't complete that transformation. Are the cells made with gene therapy as good as the neurons we can make from stem cells?

With cell therapy clinical trials around the corner and improvements in gene therapy technology, patients with Parkinson's disease have reasons to stay active and optimistic about the future.

bradley.fikes@sduniontribune.com

(619) 293-1020

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Brain cells reprogrammed to make dopamine, with goal of Parkinson's therapy - The San Diego Union-Tribune

Research Reveals Targeted Gene Therapy Is More Advantageous … – Digital Journal

A research report by published in the Journal of medical informatics on the topic of Research Progress on Treatment of Cancer with Compatibility of Traditional Chinese Medicine establishes that the targeted gene therapy is more effective than Surgery, Chemotherapy and Radiotherapy.

Cancer is one of the major life-threatening diseases that people often worry about. People suffering from cancer often undergo traditional treatments, such as surgery, chemotherapy and radiotherapy. However, such treatments could have harmful side effects. A research was recently conducted aimed at studying traditional Chinese medicine compatibility with respect to treating prostatic cancer. The study reveals that the targeted gene therapy is more advantageous to traditional cancer treatments of Surgery, Chemotherapy and Radiotherapy.

The study also points out the targeted gene therapy can be combined with other therapies for a more effective result. However, this therapy is also not mature enough to address all health issues related to the prostatic cancer. In such a scenario, Dr. Songs 3D Prostate Targeted Treatment emerges as a safe and reliable treatment for prostate cancer. The research revealed that the therapy can be combined with local targeted injections. The technique makes the therapy more effective and increases its killing effect on cancer cells.

Video Link: http://www.youtube.com/embed/xIFCz5p8PDo

Dr. Songs treatment is based on the direct injection technique of the traditional Chinese medicine system. Dr. Xinping Song acknowledges the findings of the research and also the anti-cancer extract compatibility of the traditional Chinese medicine.In this prostate cancer treatment, patients are given small targeted injections in the affected areas of the prostate to help eliminate causative pathogens and clear the blockage. The injections carry herbal extracts only, which are safe and have no side effects at all. This is the reason this treatment is harmless and more effective than surgery or chemotherapy.

Dr. Song believes that the traditional Chinese anticancer medicine can better interpose with the symptoms of cancer patients. Dr. Songs prostate cancer treatment that follows the principles of traditional Chinese medicine is a clinical breakthrough. This innovative treatment brings more advantages in patients and their familys lives.

At Dr. Song 3D Urology and Prostate Clinic, patients can undergo all types of prostate care and treatment, including the treatment for the prostate cancer. This natural treatment method saves the cost and also meets the patients requirements in an effective manner. With a non-surgical and quality treatment, patients gradually improve their health and get rid of their pain and sufferings.

To know more about Dr Songs 3D prostate treatment, one can visit the website https://www.prostatecancer.vip/

About 3D Urology and Prostate Clinic

The 3D Urology and Prostate Clinic is a premier prostate treatment clinic. The clinic specializes in treating various types of prostate diseases and complications, such as prostatitis, enlarged prostate, benign prostatic hyperlasia (BPH), prostate cancer, seminal vesiculitis, epididymitis,cystitis, prostate blockage and calcification, and chronic pelvic pain syndrome (CPPS), etc. The clinic is a medical clinic, licensed and approved by the Ministry of Health of the Peoples Republic of China.

Media Contact Company Name: Dr. Song's 3D Prostate and 3D Prostatitis Clinic Contact Person: Miss Alisa Wang, English Assistant to Dr. Song Email: prostatecure3d@gmail.com Phone: 86-186-7321-6429 Address:The Xiangtan 3D Prostatitis and Prostate Clinic Address - Jin Xiangtan Square Office Building, Suite 801, Shao Shan Middle Rd City: Xiangtan State: Hunan Country: China Website: https://www.prostatecancer.vip/

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Research Reveals Targeted Gene Therapy Is More Advantageous ... - Digital Journal

Gene research for Essex teenager with rare wasting disease could be a world first – Dunmow Broadcast

PUBLISHED: 08:45 06 April 2017

Angela Singer

Maddi Thurgood pictured on the farm at Saffron Walden County High

Archant

Scientists are now being recruited for research posts to work on a gene therapy strategy for Maddi Thurgood, the teenager whose rare, so far incurable, wasting condition they hope to treat. If it works, it will be a world first.

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Having travelled to America and Canada to see top specialists, help is now being offered by Sheffield University of Neurosciences (SITRAN) but it will cost 224,000.

With the community rallying in both Saffron Walden and Dunmow, over half that sum has been raised. Maddie is a pupil at the Joyce Frankland Academy in Newport and was previously at Helena Romanes in Dunmow.

After this latest medical trial was reported in The Saffron Walden Reporter and The Dunmow Broadcast, with a picture of Maddie receiving 700 presented by The Ohio Country Music Club in Newport, another benefactor has given 10,000.

Melissa Jones, captain of Saffron Walden Golf Club, is a trustee of The Donald Forrester Trust, set up by her late uncle.

She said: I was aware of the campaign and the collection jars in the shops round the town and when I saw the picture of the donation, I thought our trust was set up for this purpose.

Maddi was diagnosed in April 2016, just after her 15th birthday, with spastic paraplegia gene 15. Its a motor neurone so rare, no one else is known to have it in the UK and fewer than 20 people worldwide. However the Sheffield research project, to develop a gene therapy just for Maddi, could also help a three-year-old girl called Robbie in Boston, America.

Maddis mum, Carina spends her days researching across the globe in a race against time for something to stop her daughter deteriorating.

The youngster, once a keen ice-skater and still an enthusiastic pupil on the animal welfare course at Saffron Walden County High, now walks with a stick. She goes to school on her good days and is always seen with a smile.

Carina, said: We are in touch with Robbies parents constantly. We didnt choose to be in this situation but we are trying to do the best for our children.

The condition eventually affects all four limbs, the brain, vision and hearing. A website: saveourmaddi.co.uk has been set up to appeal for fundraisers. To help Maddi, email: info@saveourmaddi.co.uk or see: http://www.facebook.com/SaveOurMaddiAppeal or http://www.treeofhope.org.uk/maddis-story-save-our-maddi

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Gene research for Essex teenager with rare wasting disease could be a world first - Dunmow Broadcast

World-renowned scientists to speak at Precision Medicine in Child Health research day – UCalgary News

Who would have ever thought that some forms of blindness could be repaired? Ian MacDonald is a pioneer in gene therapy as a treatment of genetic eye diseases. The ophthalmologist will be one of two external speakers at the Alberta Childrens Hospital Research Institute (ACHRI) symposium Wednesday, April 19 at the Foothills Campus. MacDonald, a professor in the Department of Opthalmology and Visual Sciences at the University of Alberta, will speak on Novel Therapeutic Approaches to Human Disease The Example of Ocular Gene Therapy. We spoke to him briefly about his research.

Q: Why are ocular diseases at the forefront of precision medicine?

A: The eye is an attractive target for precision medicine and gene therapy as it offers a readily accessiblesite for surgical intervention and injection, is relatively immune-privileged, andtreatment of only one eye allows the non-treated eye to serve as a control for the experimental therapy.

Q:Is this the right time to pursue research in precision medicine?

A: Now is definitely the right time to pursue research in precision medicine. Phenotyping in human ocular heritable disease is advanced and we can now make clinical decisions backed up by molecular genetic confirmation. With new tools ofnext generation sequencing, we have a lot to offer in terms of precision medicine to our patients and families.

Q:How important is basic research to your accomplishments?

A:The first ocular gene therapy trial for choroideremia was based on the products of 30 years of scientific research (somein Canada, including mapping the gene in 1987). It simply could not have occurred without solid pre-clinical research, a team of informed and talented researchers, and significant infrastructure and research support from national (CFI, CIHR, FFB Canada, Choroideremia Research Foundation, Canada Inc.) and provincial (AIHS) funding agencies.

Fruit flies model how human traits are passed on

Trudy Mackay is a distinguished scientist specializing in quantitative genetics. Her research relies on the fruit fly an insect that has provided scientists the means for biomedical research and discovery for over 100 years. Mackays work has allowed researchers across the world to understand the genetic traits crucial to plant, animal and human health. A fellow of the Royal Society and the National Academy of Sciences, Mackay was awarded the 2016 Wolf Prize Laureate for Agriculture, widely considered one of the most prestigious prizes in science. She is now at North Carolina State University. Mackay will speak on The Genetic Architecture of Complex Traits: Lessons From Drosophila. We also spoke to her briefly about her research.

Q:Is fruit fly DNA much different from ours?

A:The fruit fly genome is about 10 times smaller than the human genome. However, and perhaps surprisingly, about two-thirds of fly genes have a human counterpart, and 70 per cent of human disease genes have a fruit fly counterpart. Thus, flies are a good genetic model for quantitative traits, including diseases, in humans.

Q:The first human genome was sequenced in 2003. How much more complex are human genes than originally thought?

A:The first human genome sequence was surprising in that many fewer genes were present than experts had predicted. We now know that regulatory component of the human genome is at least as important as the protein coding genes, and deciphering the regulatory code is an active area of research.

Q:How important is precision medicine to our future and health care of children?

A:Precision medicine is "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person." Precision medicine has the promise to revolutionize future heath care by using genetic and genomic data to optimize individual disease risk assessment and therapy.

UCalgary and ACHRI researchers to present at symposium

The symposium will also hear from University of Calgary and ACHRI researchers:

Information on registration to attend the Alberta Childrens Hospital Research Institute Symposium on Precision Medicine in Child Health and details on the program agenda are available on the ACHRI website.

The Alberta Childrens Hospital Research Institute (ACHRI) symposium is an annual event supported by generous community donations through the Alberta Childrens Hospital Foundation. The research day highlights leading child health research from pre-conception to early adulthood. The day consists of presentations from external and internal speakers and a poster competition, TED Talks and presentations from ACHRI trainees. The symposium concludes with presentation and poster awards from ACHRI Director Dr. Brent Scott.

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World-renowned scientists to speak at Precision Medicine in Child Health research day - UCalgary News

Australasian Gene Cell Therapy Society AU

Dear AGCTS Membership & Associates,

At our 2014 Annual General Meeting, we unanimously voted for a name change to the Australasian Gene and Cell Therapy Society (AGCTS) to reflect the broader interests of our society members in cell biology, particularly the use of stem cells in delivering gene medicines. The name change of our Society was finalised in 2015, announced to our membership and associates via email. You are now looking at our new website http://www.agcts.org.au.

At that meeting, the Executive Committee heard the membership loud and clear. Stronger links must be forged with cell therapy and stem cell research community. To achieve this goal we have partnered with the Australasian Society for Stem Cell Research (ASSCR) to deliver what is shaping up to be an inspiring and exciting Scientific Program with an incredible line-up of international research leaders and clinicians 24th 26th May 2017, UTS Aeriel Function Centre, Sydney.

I would like to acknowledge the already enormous contribution of the Joint 10th AGCTS and ASSCR Conference Organising Committee who have volunteered their time to make this meeting a success. Id like to individually thank our AGCTS VP Jim Vadolas, Treasurer Ann Simpson, Secretary Samantha Ginn, Exec Members Paul Gregorevic, Sharon Cunningham, Marguerite Evans-Galea, Ex-officio member Steve Wilton and ASSCR President Melissa Little, past-President Michael OConnor, VP Ed Stanley, Treasurer Robyn Meech, Secretary Michael Morris, Exec Members Michael Doran, Margret Schuller, Helen Abud, Trish Barker.

I am very proud to be leading a dedicated society which has continued to provide advocacy for Australian research in the development of molecular medicines, cell and gene therapies. Our membership works tirelessly to reduce the impact of some of Australias largest health problems and improve the well being of those diagnosed with acquired or genetic disease. Focus areas of our membership are broad and include cancer, viral infection (HIV, Hepatitis B & C), autoimmunity, immunodeficiency, diabetes, metabolic disease, blood, eye, ear and muscle disorders.

Although there have been considerable funding challenges of late, momentum is clearly building thanks to the enormous commitment and perseverance and of our researchers, clinicians, industry leaders and regulators. The AGCTS Executive Committee and I feel privileged to represent you and our sector in this very exciting journey and witness first-hand the translation of our field into the clinic which will be featured at our next meeting.

I look forward to welcoming you to our Joint 10th AGCTS and ASSCR Scientific Meeting in Sydney, 24th 26th May 2017.

Kind regards,

Rosetta Martiniello-Wilks PhD

President, Australasian Gene and Cell Therapy Society http://www.agcts.org.au

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Australasian Gene Cell Therapy Society AU

Sarepta nabs Regeneron exec Stehman-Breen as new CMO – FierceBiotech

As it continues its sales push for the controversial Duchenne med Exondys 51 (eteplirsen), Sarepta has taken on a new chief medical officer to help it develop its next-gen DMD pipeline.

The biotech announcedthis morning that Catherine Stehman-Breen, M.D., M.S., has become its new CMO after her two-year stint as VP of clinical development and regulatory affairs at Regeneron, and coming after a 12-year tenure at Amgen, where she led the neuroscience, nephrology and bone therapeutic areas.

She will take the role away from Ed Kaye, M.D., the companys CEO, who had also been holding the dual position of chief medical officer since 2011.

I deeply admire Sareptas profound commitment to improving the lives of boys with Duchenne muscular dystrophy and the exciting and innovative PMO and PPMO platform that is being harnessed to achieve this goal, said Stehman-Breen.I am excited to join the company at a time when it is rapidly building and look forward to working closely with the internal team and external collaborators as we seek to develop and commercialize novel therapies that address this significant unmet medical need.

We are thrilled to have Dr. Stehman-Breen join Sarepta and our mission to develop treatments for boys with Duchenne muscular dystrophy, added Kaye. Her extensive experience in global development, clinical operations and research across multiple therapeutic areas, at leading biopharmaceutical companies, positions her well to lead our medical teams and rapidly advance our RNA-targeted platforms and gene therapy programs.

Its current FDA-approved DMD med, which got the nod last fall despite having limited data and a negative AdComm, can only treat certain patients, namely those with the mutation of the dystrophin gene amenable to exon 51 skipping, which affects about 13% of the population with DMD.

Its pipeline is now trying to treat more boys with the genetic condition that will usually prove fatal in early adulthood, and includes research deals with Nationwide Childrens Hospital to work on their microdystrophin gene therapy program, as well as another form of gene therapy.

An initial phase 1/2a trial for the microdystrophin gene therapy is slated to begin at the end of the year and will be done at Nationwide Childrens.

It has also penned an exclusive license agreement with Nationwide for their Galgt2 gene therapy program. This early-stage program aims to research a potential surrogate gene therapy approach to DMD, whereby the gene therapy looks to induce genes that make proteins that can perform a similar function as dystrophin.

The goal here will be to produce a muscle cell that can function normally even when dystrophin is absent.

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Sarepta nabs Regeneron exec Stehman-Breen as new CMO - FierceBiotech

New Gene Therapy for Cancer Offers Hope to Those With No Options Left – NBCNews.com

Dimas Padilla, 43, of Kissimmee, is in remission from non-Hodgkin's lymphoma after receiving an experimental cancer therapy called CAR-T. Here, he poses with his wife, Dimas Padilla. NBC News

"These are patients who really are without hope," Locke said.

"Patients who at best could expect to have a one in 10 chance of having a complete disappearance of their lymphoma," he added. "So the results are really exciting and remarkable."

More than 80 percent of the 101 patients who got the treatment were still alive six months later. "Only about half the patients who (went) on this study could expect to even be alive six months after the therapy," Locke said.

Padilla is one of them. When the cancer came back most recently time, his lymph nodes were bulging. "They were so bad that they moved my vocal cords to the side and I was without my voice for almost three months," he said.

"They kept growing and my face was swelling, and I thought I was going to choke while I was sleeping."

Padilla was among the last patients enrolled in the trial.

"Once they infused the cells in my body, within two to three days all my lymph nodes started melting like ice cubes," he said.

The treatment is no cake walk. Just as with a bone marrow transplant, the patient's immune system must be damaged so that the newly engineered T-cells can do their work. That involves some harsh chemotherapy.

It's so harsh that it killed three of the patients in the trial. Padilla says he still has some memory loss from his bout with the chemo.

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"I had some fevers and I was shaking and a little bit of memory loss but it was temporary," he said. "I will say that it was pretty intense for like a week, but in my second week, second week and a half, I was starting to feel more normal. I was able to start walking and the shaking was not as bad as it was in the beginning," he said.

And when he got the news that his lymphoma was gone at least for now Padilla was delighted.

"I kissed my wife. I probably kissed the doctor," he said.

The company developing the treatment, Kite Pharma, sought Food and Drug Administration approval for the therapy on Friday.

It carries the tongue-twisting name of axicabtagene ciloleucel, and it's the first commercial CAR-T product to get into the FDA approval process.

It's far too early to say any of the patients were cured, Locke cautions. And such a difficult treatment course is really only for patients in the most desperate condition.

"The patients in this trial were really without options," he said.

But Locke is sold on the approach. "This is a revolution. It's a revolution in cancer care. This is the tip of the iceberg," he said.

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New Gene Therapy for Cancer Offers Hope to Those With No Options Left - NBCNews.com

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