Category Archives: Gene Medicine

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Credit: Albert Einstein College of Medicine

September 15, 2021 (BRONX, NY) Albert Einstein College of Medicine has received a five-year, $5 million grant from the National Institutes of Health (NIH) to support the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC), which has been at the forefront of research on normal and abnormal brain development for more than 50 years. The funding will sustain and deepen collaborations between Einstein scientists and clinicians at Montefiore Health System aimed at improving the care and treatment of children with intellectual and developmental disabilities (IDD), including those stemming from rare diseases.

Our center is home to dozens of basic science and translational researchers who investigate the biological pathways and neurological mechanisms that underlie a range of intellectual and developmental disabilities, said Sophie Molholm, Ph.D., co-primary investigator on the grant and co-director of the RFK IDDRC. But ultimately, our sights are set on helping the children with IDDs in the Bronx and empowering their families and caregivers, a goal this new grant will help us achieve, added Dr. Molholm, who is professor of pediatrics, in the Dominick P. Purpura Department of Neuroscience, and of psychiatry and behavioral sciences at Einstein.

Investigating Gene Mutations

Previous NIH support helped establish a research program on 22q11.2 Deletion Syndrome (22q11.2DS), an incurable genetic disorder associated with delayed intellectual development and psychiatric conditions. Thisnew grants research focus involves the X chromosome'sKDM5Cgene, which plays a central role in brain development and behavior. Mutationsin theKDM5Cgene lead to intellectual disabilities and other conditions, particularly in males although females can also be affected.

In 2020, the IDDRCs annual Rare Disease Day event featured a special program in which 12 families with children who have a KDM5C variant came together from around the country and from England to meet for the first time. They learned about recent findings and the RFK IDDRC partnerships at Montefiore and Einstein that are addressing research and care. Hayden Hatch, an M.D./Ph.D. student at Einstein, spearheaded the effort.

Julie Secombe, Ph.D., professor of genetics and in the Dominick P. Purpura Department of Neuroscience, will lead basic science studies on KDM5C, along with Bryen Jordan, Ph.D., associate professor in the Dominick P. Purpura Department of Neuroscience and associate professor of psychiatry and behavioral sciences. The translational and clinical aspects of the work will be led by Dr. Molholm and Lisa Shulman, M.D., professor of pediatrics at Einstein, interim director of the Rose F. Kennedy Childrens Evaluation and Rehabilitation Center (CERC) at the Childrens Hospital at Montefiore, and a developmental pediatrician at Montefiore.

Advancing IDD Research and Collaboration

Einstein is one of 15 IDDRCs funded by the NIH and was among the first such centers established in the 1960s. More than 100 researchers study neurodevelopmental conditions including autism spectrum disorders, attention-deficit hyperactivity disorder, Rett and Williams syndromes, Niemann-Pick and other lysosomal storage diseases, neurocutaneous disorders, and infantile and childhood seizures. The RFK IDDRC also has more than 20 clinical partners in neurology and pediatrics.

Were in the unique position of having many different IDD-focused programs under one roof, said Steven Walkley, D.V.M, Ph.D., co-director of the IDDRC, co-primary investigator on the grant, professor in the Dominick P. Purpura Department of Neuroscience, of pathology, and in theSaul R. Korey Department of Neurology.In addition to the IDDRC, the Rose F. Kennedy Center includes CERC, which is part of our University Center for Excellence in Developmental Disabilities; the NIH-funded healthcare professional training program known as LEND (Leadership Education in Neurodevelopmental and Related Disabilities); and a postdoctoral fellowship training program. Were truly at the forefront of patient-oriented science both for the Bronx community and beyond.

The new grant also funds the centers four interdisciplinary scientific cores, which support biomedical, clinical, and translational research on IDDs. The cores include resources for clinical phenotyping, epigenetic and genomic analyses, and neural cell engineering and imaging.

The grant, titled Support for the Rose F. Kennedy IDDRC P50, is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health (1 P50 HD105352-01).

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About Albert Einstein College of Medicine

Albert Einstein College of Medicineis one of the nations premier centers for research, medical education and clinical investigation. During the 2020-21 academic year, Einstein is home to 721M.D.students, 178Ph.D.students, 109 students in thecombined M.D./Ph.D. program, and 265postdoctoral research fellows. The College of Medicine has more than 1,900 full-time faculty members located on the main campus and at itsclinical affiliates. In 2020, Einstein received more than $197 million in awards from the National Institutes of Health (NIH). This includes the funding of majorresearch centersat Einstein in aging, intellectual development disorders, diabetes, cancer, clinical and translational research, liver disease, and AIDS. Other areas where the College of Medicine is concentrating its efforts include developmental brain research, neuroscience, cardiac disease, and initiatives to reduce and eliminate ethnic and racial health disparities. Its partnership withMontefiore, the University Hospital and academic medical center for Einstein, advances clinical and translational research to accelerate the pace at which new discoveries become the treatments and therapies that benefit patients. Einstein runs one of the largest residency and fellowship training programs in the medical and dental professions in the United States through Montefiore and an affiliation network involving hospitals and medical centers in the Bronx, Brooklyn and on Long Island. For more information, please visiteinsteinmed.org, read ourblog, followus onTwitter, like us onFacebook,and view us onYouTube.

About Montefiore Health System

Montefiore Health System is one of New Yorks premier academic health systems and is a recognized leader in providing exceptional quality and personalized, accountable care to approximately three million people in communities across the Bronx, Westchester and the Hudson Valley. It is comprised of 11 hospitals, including the Childrens Hospital at Montefiore, Burke Rehabilitation Hospital and more than 200 outpatient ambulatory care sites. The advanced clinical and translational research at its medical school, Albert Einstein College of Medicine, directly informs patient care and improves outcomes. From the Montefiore-Einstein Centers of Excellence in cancer, cardiology and vascular care, pediatrics, and transplantation, to its preeminent school-based health program, Montefiore is a fully integrated healthcare delivery system providing coordinated, comprehensive care to patients and their families. For more information please visitwww.montefiore.org. Followus onTwitterand view us onFacebookandYouTube.

About RFK IDDRC

The Rose F. Kennedy Center at Einstein and Montefiore includes the RFK UCEDD and CERC. Annually, CERC serves about 5,000 patients with IDD and provides medical, psychiatric, and dental services, along with social services and speech language, occupational, and physical therapies. Most of its patients are children, but the center also serves people older than age 18 with IDD who have transitioned from pediatric care. They receive services in its Harold Diner Special Needs Dentistry program, Adult Literacy program, and a new primary care program.

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Albert Einstein College of Medicine awarded $5 million for research on intellectual and developmental disabilities - EurekAlert

press release: Virtual Saving Sight Session: When Gene Therapy Meets Reality

Thursday, September 30, 6pm

Hosted by Melanie Schmitt, MD, assistant professor // pediatric ophthalmology and adult strabismus

Saving Sight Sessions are community events featuring leading research from the Department of Ophthalmology and Visual Sciences. Please join us online for this exciting discussion.

The event is free but registration is required.

Melanie Schmitt, MD

John W. and Helen Doolittle Professor, pediatric ophthalmology and adult strabismus specialist, director of the pediatric inherited retinal degeneration clinic, co-director of the ocular genetics program

Dr. Melanie Schmitt is a respected pediatric ophthalmologist and adult strabismus specialist. Her research focuses on inherited retinal degenerations. In this engaging session, Dr. Schmitt will present on gene therapy that is available for a rare genetic eye disorder, Leber congenital amaurosis.

Dr. Schmitt earned her medical degree at the University of Wisconsin School of Medicine and Public Health. She completed her internship year and ophthalmology residency at Beaumont Hospital in Royal Oak, Michigan, followed by a pediatric ophthalmology and adult strabismus fellowship at Cole Eye Institute in Cleveland, Ohio. She joined the DOVS faculty in 2014.

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ONLINE: When Gene Therapy Meets Reality - Isthmus

CDMO AGC Bio will expand its Heidelberg, Germany facility to increase its manufacturing capacities for customer pDNA and mRNA projects.

The expansion, of which financial details have not been disclosed, sees contract development manufacturing organization (CDMO) AGC Biologics boost its current production capacity for plasmid-DNA (pDNA) and messenger RNA (mRNA) by adding an additional manufacturing line.

The Heidelberg expansion will also include additional warehouse capacity, a cleanroom for mRNA development and production, and a process development lab for microbial protein and cell and gene therapy projects.

Image: Stock Photo Secrets

Cell and gene therapy products have brought new promising treatments in multiple areas of high unmet medical needs. However, a record-breaking cell and gene therapy pipeline is creating vast market opportunities yet causing a manufacturing capacity shortage, a spokesperson for AGC told BioProcess Insider.

Creating new manufacturing capacity requires investments, lead time, and technical expertise. [The expansion] puts AGC Biologics in a unique position as one of the few CDMOs in the world that can provide end-to-end services for the development and manufacturing of cell and gene therapies.

The Alliance for Regenerative Medicine reported that this year there are currently 1,320 industry-sponsored regenerative medicines and advanced therapies trials ongoing globally.

According to AGC Bio, the expansion also builds on the firms decision to buy a 622,000 square-foot cell and gene therapy facility in Longmont north of Denver, Colorado from Novartis in July.

A year prior to this, AGC Bio acquired a cell and gene therapy site in Milan, Italy, added through the 240 million ($284 million) acquisition of Molecular Medicine (Molmed).

The facilitys added capabilities are expected to be fully operational in 2023 and the CDMO said it will continue to invest in our Heidelberg facility and new jobs will be created as a result of this latest expansion.

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AGC boost pDNA and mRNA capacity with expansion - BioProcess Insider - BioProcess Insider

RIVERSIDE, Calif. Vaccinations can be a controversial subject for many people, especially when it comes to injections. So what if you could replace your next shot with a salad instead? Researchers at the University of California-Riverside are working on a way to grow edible plants that carry the same medication as an mRNA vaccine.

The COVID-19 vaccine is one of the many inoculations which use messenger RNA (mRNA) technology to defeat viruses. They work by teaching cells from the immune system to recognize and attack a certain infectious disease. Unfortunately, mRNA vaccines have to stay in cold storage until use or they lose stability. The UC-Riverside team says if theyre successful, the public could eat plant-based mRNA vaccines which could also survive at room temperature.

Thanks to a $500,000 grant from the National Science Foundation, researchers are now looking accomplish three goals. First, the team will try to successfully deliver DNA containing mRNA vaccines into plant cells, where they can replicate. Next, the study authors want to show that plants can actually produce enough mRNA to replace a traditional injection. Finally, the team will need to determine the right dosage people will need to eat to properly replace vaccinations.

Ideally, a single plant would produce enough mRNA to vaccinate a single person, says Juan Pablo Giraldo, an associate professor in UCRs Department of Botany and Plant Sciences, in a university release.

We are testing this approach with spinach and lettuce and have long-term goals of people growing it in their own gardens, Giraldo adds. Farmers could also eventually grow entire fields of it.

Giraldo and a team of scientists from UC-San Diego and Carnegie Mellon University say the key to making edible vaccines are chloroplasts. These are small organs inside plant cells which help convert sunlight into energy.

Theyre tiny, solar-powered factories that produce sugar and other molecules which allow the plant to grow, Giraldo explains. Theyre also an untapped source for making desirable molecules.

Previous studies have shown that its possible for chloroplasts to express genes which are not a natural part of that plant. Giraldos team accomplished this by sending genetic material inside of a protective casing into plant cells.

In the new study, Giraldo teamed with UC-San Diegos Professor Nicole Steinmetz to use nanotechnology to deliver more genetic material into chloroplasts.

Our idea is to repurpose naturally occurring nanoparticles, namely plant viruses, for gene delivery to plants, Steinmetz says. Some engineering goes into this to make the nanoparticles go to the chloroplasts and also to render them non-infectious toward the plants.

One of the reasons I started working in nanotechnology was so I could apply it to plants and create new technology solutions. Not just for food, but for high-value products as well, like pharmaceuticals, Giraldo adds.

Read more from the original source:
Vaccines in your salad? Scientists growing medicine-filled plants to replace injections - Study Finds

Even after decades of research, cancer cells still have secrets to spill. To that end, Stanford Medicine researchers have set out to discover the hidden drivers of cancer's insidious nature.

In a recent study led by Roarke Kamber, a postdoctoral scholar in the lab of Michael Bassik, the team identified hundreds of potential targets for cancer therapies using a new screening strategy that allows for the systematic activation and deactivation of thousands of genes -- molecular instructions that dictate a cell's fate -- in both cancer cells and immune cells.

Powered by a cutting-edge gene-editing technology known as CRISPR, the team discovered a new function for a little-researched gene called APMAP that they're hoping will lead to a new cancer treatment.

Normally, when a pathogen invades the body, the immune system quickly recognizes it as foreign. Part of the immune system known as an antibody latches on to the intruder, marking it with a molecular post-it note that says "Hey! Over here!" which signals to other immune cells, particularly macrophages, that the body needs to rid itself of this new enemy. That process is called phagocytosis -- essentially, a macrophage engulfs and eats the intruder.

Cancer has a particularly nasty ability to disguise itself so that immune cells can't recognize it as "other," and don't attack it. One of the main drivers of this invisibility is a protein called CD47, a molecular signal that scientists often refer to as a "don't eat me" signal. Cancer cells produce CD47, a deceitful signal to macrophages that the cancer cells are friend, not foe, and they don't need to be eaten. Drugs that inhibit CD47 are starting to show promising results in clinical trials, but the treatment is not foolproof and there can be problematic side effects.

"We knew that many cancer cells are still resistant to phagocytosis, even if we block the 'don't eat me' signal," said Kamber." There was a sense there are additional signals out there that have not been discovered. So we set out to find them using systematic screening."

The team published the results in Nature on September 8. Bassik is the senior author of the study and Kamber is the lead author.

Using CRISPR, Kamber and his team developed a screening method through which they individually deleted or activated each gene in a cancer cell one-by-one as it was exposed to a hungry macrophage. Then, they did the same to the genes of the macrophage to see which genes played a role in gobbling up cancer cells.

"We used CRISPR to remove every gene in the human genome, one by one, to determine which of those genes were required for cancer cells to resist phagocytosis," said Kamber.

If the team removed a particular gene and the cancer cell suddenly became "edible" to a macrophage, they knew they had found a gene that was involved in cancer cell survival.

The team identified hundreds of genes that seemed to play a role in protecting cancer cells from phagocytosis, or conversely, making them more vulnerable to it, including the one that encodes CD47. While much more research is needed to investigate the potential drug targets, the scientists zeroed in on one they found particularly intriguing.

"What was really surprising is that one of the strongest regulators of this process is a gene that's been little studied called APMAP," said Kamber. "The gene has never been linked to phagocytosis regulation before and not too much is known about what it does."

It could be an ideal candidate for a drug because without APMAP, the team found, the cancer cells were very susceptible to phagocytosis. More than 90% of cancer cells were phagocytosed in vitro without APMAP, compared to only 10-15% when the gene is active.

The team wants to pursue APMAP as a therapeutic target for cancer -- small molecules could, in theory, be used to block APMAP from working, said Kamber. Plus, he added, "It appears to have certain advantages in terms of therapy -- it's not required for the growth of normal cells." That means inhibiting APMAP would likely be safe for the body and would not cause the immune system to falsely attack any of its own healthy cells.

In addition to identifying this promising drug target, Bassik emphasized that the CRISPR-based screening strategy could be applied to a wide variety of pressing questions.

"The work not only reveals an exciting new therapeutic target," he said, "it also establishes a general strategy for investigating cell-cell interactions in diverse systems."

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How to beat cancer? Find the genes that help it hide - Scope

TORONTO, Sept. 17, 2021 /CNW/ - Vertex Pharmaceuticals Incorporated (Canada) (Nasdaq: VRTX) today announced that it has signed a Letter of Intent (LOI) with the pan-Canadian Pharmaceutical Alliance (pCPA), which represents an agreement in principle regarding the public reimbursement of PrTRIKAFTA (elexacaftor/tezacaftor/ivacaftor and ivacaftor) for eligible patients with cystic fibrosis (CF).

Vertex Pharmaceuticals Incorporated (Canada) Logo (CNW Group/Vertex Pharmaceuticals Incorporated (Canada))

This is an extension of the LOI with the pCPA including PrKALYDECO (ivacaftor) and PrORKAMBI (lumacaftor/ivacaftor).

"This is a significant milestone for patients with CF in Canada," said Duncan McKechnie, Senior Vice President, North America Commercial Operations, Vertex Pharmaceuticals. "We would like to thank the pCPA and the participating jurisdictions for their collaborative approach. We share the urgency of the CF community to bring this process to a successful conclusion, and we will continue our work with all the provinces and territories so that eligible people with CF have the opportunity to receive TRIKAFTA, KALYDECO and ORKAMBI."

This extension of the LOI follows the positive clinical recommendation for TRIKAFTA by both the Canadian Agency for Drugs and Technology in Health (CADTH) and l'Institut national d'excellence en sant et en services sociaux (INESSS) in Quebec.

About TRIKAFTA

TRIKAFTA (elexacaftor/tezacaftor/ivacaftor and ivacaftor) is a prescription medicine used for the treatment of cystic fibrosis (CF) in patients ages 12 years and older who have at least one copy of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. TRIKAFTA is designed to increase the quantity and function of the F508del-CFTR protein at the cell surface. The approval of TRIKAFTA was supported by positive results of three global Phase 3 studies in people ages 12 years and older with CF: a 24-week Phase 3 study (Study 445-102) in 403 people with one F508del mutation and one minimal function mutation (F/MF), a four-week Phase 3 study (Study 445-103) in 107 people with two F508del mutations (F/F), and a Phase 3 study (Study 445-104) in 258 people heterozygous for the F508del-CFTR mutation and a CFTR gating mutation (F/G) or a residual function mutation (F/RF).

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About Cystic Fibrosis

Cystic fibrosis (CF) is a rare, life-shortening genetic disease affecting more than 80,000 people globally. CF is a progressive, multi-system disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. Children must inherit two defective CFTR genes one from each parent to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. These mutations, which can be determined by a genetic test, or genotyping test, lead to CF by creating non-working and/or too few CFTR proteins at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the early 30s.

About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has multiple approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of cell and genetic therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 11 consecutive years on Science magazine's Top Employers list and a best place to work for LGBTQ equality by the Human Rights Campaign.

Special Note Regarding Forward-Looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, statements made by Duncan McKechnie in this press release and statements regarding our expectations that eligible people with CF in Canada will have access to TRIKAFTA. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of risks and uncertainties that could cause actual events or results to differ materially from those expressed or implied by such forward-looking statements. Those risks and uncertainties include, among other things, that the company ultimately may not be able to secure reimbursement in Canada, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, and other risks listed under the heading "Risk Factors" in Vertex's most recent annual report and subsequent quarterly reports filed with the Securities and Exchange Commission at http://www.sec.gov and available through the company's website at http://www.vrtx.com. You should not place undue reliance on these statements. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

Vertex Pharmaceuticals Incorporated

SOURCE Vertex Pharmaceuticals Incorporated (Canada)

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Vertex Announces Letter of Intent With pan-Canadian Pharmaceutical Alliance for Public Reimbursement of CFTR Modulators Extended to Include...

Geneticsare among the base of the biology field as well as disease studies. Numerous genetic research is gradually culminating every year, and more medical and technological advancements are surfacing because of our gene knowledge developments. In a new study, Baylor College of Medicine scientists has developed a new approach to observe and gather data from genetic manipulations that occur in a selected organism without even going through every variant of the same subject. The novel approach was conducted with the help of a drug-based genetic platform which the experts also constructed.

(Photo: FEIPhenom / WikiCommons)

The new study enumerated the functions biologists can utilize through gene equipment. In addition, the authors of the study included several of the main functions the new technology can be applied with. The paper also showed other additional configurations for the drug-based gene platform to work at its best, including setting it up, processing specimens, and analyzing information from the examination. Moreover, the technology is revealed to have the capacity to work with other traditional methods used in biological studies.

The new genetic platform is composed of several devices and resources that could help any gene-related investigation be convenient, more efficient, and faster than its predecessors. Among the most important part of gene technology is the plasmid library that could be a reference for scientists in numerous experiments and prevent them from going through a separate and complex experiment to find specifics needed for the main research.

Baylor's Verna and Marrs McLean Department of Biochemistry and Molecular Biology expert and lead author of the study Nick Matinyan said in a PhyOrgreport that they selected the Drosophilaor fruit fly as a subject for the study as it is the most well-observed specimen in most genetic researches and gives comprehensive results in biological processes such as genetic mutations. In addition, the fruit flies are an effective subject that expresses notable results that helped many studies on health and disease.

ALSO READ: Rockefeller University Developed a 3D Imaging to Capture How Ribosome Assembly Works in Nucleolus For the First Time

The usual study that involves the help of fruit flies requires plenty of variants of the insect. Through the process, the fruit flies are reintroduced to a community before undergoing examinations. From there, a specific subject expresses the most precise genes preferred by the research. During the selection, there are tags added to the genes of the selected subjects for the experts to precisely differentiate the specimens from the rest of the group.

The genetic tagsbeing normally present in the fruit flies have been concluded in the previous studies, which eases the painstaking process. While the process has effectively proven its advantage and has worked for many years in genetic ventures, the co-author of the study Koen Venken said that the fruit fly method is a downside. To procure specific subjects, researchers must screen thousands of flies manually before even selecting the best specimen. The normal process is truly time-consuming and somewhat frustrating.

With the novel technology, experts can now run experiments with the help of a subject that has not been selected from a vast number of potential candidates. The approach uses a drug-resistance tag that will allow experts to easily determine the right specimen once it survives the specialized exposure, eliminating unfit candidates and leaving out the best ones for genetic investigations. The study was published in the journal Cell Reports, titled "Multiplexed drug-based selection and counterselection genetic manipulations in Drosophila."

RELATED ARTICLE: Gold-Mantled Ground Squirrels Personalities Similar to Humans Like Being Shy, Social, or Bold That Is Beneficial for Ecosystem

Check out more news and information on Biologyin Science Times.

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Baylor College of Medicine Developed a Novel Approach to Select Subjects for Gene Experiments More Convenient and Faster than Fruit Fly Screening...

On Sep 13, AbbVie ABBV announced a deal to co-develop and co-commercialize Regenexbio's RGNX investigational gene therapy for chronic retinal diseases like wet age-related macular degeneration wet AMD.

RGX-314 is being evaluated in a pivotal study for wet AMD, utilizing the subretinal method of delivery. It is also being studied in two separate phase II studies for diabetic retinopathy (DR) and wet AMD utilizing in-office suprachoroidal delivery.

AbbVie will make a $370 millionupfront payment to Regenxbio for rights to RGX-314. Additionally, Regenxbio will also be entitled to milestone payments of up to$1.38 billion. Per the deal, while Regenxbio will be responsible for the completion of the ongoing studies of RGX-314, AbbVie will share costs for future studies, which include a second pivotal study for wet AMD utilizing subretinal delivery.

AbbVies latest gene therapy deal has brought this space once again in focus.

Gene therapy is set to become one of the most vital spaces with high prospects in the biotech sector. Scientists have been investigating gene therapies for more than 50 years. In this, rapidly-growing field, genetic, or inherited, diseases are treated by repairing or replacing the faulty genes that cause them. The idea is to see if a healthy or functional gene can be used to restore the function of a defective or mutated gene.

The promising gene therapy approach is being evaluated for varied diseases, such as hemophilia, Duchenne muscular dystrophy (DMD), Parkinson's disease, eye disease, and cancer among others.

A few FDA-approved gene therapy products are Roches subsidiary, Spark Therapeutics Luxturna to treat biallelicRPE65mutation associated retinal dystrophy and Novartis subsidiary, AveXis Zolgensma for spinal muscular atrophy. Both these drugs are the first and the only gene therapy FDA-approved products of their kind. Some gene therapy cancer medicines like Bristol-Myers Abecma and Breyanzi, Novartis Kymriah, and Gileads Yescarta and Tecartus are also approved by the FDA for some lymphoma/leukemia indications.

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Given the potential of gene therapies to treat complex diseases, the companies developing candidates using gene therapy that are a mix of large and small firms, are in focus. A successful medicine developed by any of these companies can have the potential to generate annual revenues of $1 billion or more. All the five companies have a Zacks Rank #3 (Hold). You can see the complete list of todays Zacks #1 Rank (Strong Buy) stocks here.

uniQure N.V QURE

This company is a promising player in the gene therapy space. It is engaged in creating a pipeline of innovative gene therapies that have been developed both internally and through collaborations.

The company is developing AAV5-based gene therapy, Etranacogene dezaparvovec in late-stage studies for hemophilia B. A biologics licensing application (BLA) for Etranacogene dezaparvovec is expected to be filed in the first quarter of 2022. Also, a phase I/II study is ongoing for another gene therapy candidate, AMT-130 for Huntingtons disease in its portfolio.

In June, uniQure announced the planned acquisition of Corlieve Therapeutics, a France-based pre-clinical gene therapy company.

Sarepta Therapeutics SRPT

Sareptas lead gene therapy candidate is SRP-9001, an AAV-mediated micro-dystrophin gene therapy, which is being evaluated in a phase I/II study for DMD. The company plans to initiate a pivotal clinical studythis year. The promising candidate has also led Roche to sign a collaboration deal with Sarepta. The company plans to seek FDAs approval to start a pivotal study on its other gene therapy candidate, SRP-9003, in 2021 to evaluate it in patients with Limbgirdle muscular dystrophy (LGMD) type 2E. The company has several other pre-clinical and clinical-stage gene therapy candidates targeting additional indications like Rett Syndrome, cardiomyopathy, Emery-Dreifuss muscular dystrophy type 1, and multiple sclerosis.

MeiraGTx Holdings MGTX

MeiraGTx along with partner J&J plans to begin a phase III study on its lead pipeline candidate, AAV-RGPR as a treatment for patients with X-Linked retinitis pigmentosa (XLRP) in the second half of 2021. It will also initiate a pivotal phase III study on AAV-RPE65 for patients with RPE65-associated retinal dystrophy in the second half of 2021.

It also has a phase I study ongoing on AAV-AQP1 for grade 2/3 radiation-induced xerostomia and plans to file an investigational new drug application later this year to begin clinical studies for another candidate AAV-GAD for Parkinsons Disease.

Voyager Therapeutics VYGR

Voyager is developing gene therapies with its novel proprietary AAV capsids that have a significant potential to be more reliably on-target with less risk of dose-limiting toxicities. It has a rich early-stage/pre-clinical pipeline of new and second-generation programs in Huntingtons disease, Monogenic ALS (SOD1), spinal muscular atrophy, and diseases linked to GBA1 mutations.

Solid Biosciences SLDB

Solid Biosciences lead gene therapy candidate is SGT-001, which is being evaluated in a phase I/II study in patients with DMD. Further, pre-clinical studies on its next-generation DMD gene therapy program, SGT-003, are progressing rapidly.

Some other key names in the gene therapy space are Wave Life Sciences, Sangamo Therapeutics, Regenxbio, Pfizer, and Roches subsidiary Spark Therapeutics.

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5 Gene Therapy Stocks Back in Focus on AbbVie/Regenxbio Deal - Yahoo Finance

"Our center is home to dozens of basic science and translational researchers who investigate the biological pathways and neurological mechanisms that underlie a range of intellectual and developmental disabilities," said Sophie Molholm, Ph.D., co-primary investigator on the grant and co-director of the RFK IDDRC. "But ultimately, our sights are set on helping the children with IDDs in the Bronx and empowering their families and caregivers, a goal this new grant will help us achieve," added Dr. Molholm, who is professor of pediatrics, in the Dominick P. Purpura Department of Neuroscience, and of psychiatry and behavioral sciences at Einstein.

Investigating Gene Mutations

Previous NIH support helped establish a research program on22q11.2 Deletion Syndrome (22q11.2DS), an incurable genetic disorder associated with delayed intellectual development and psychiatric conditions. Thisnew grant's research focus involves the X chromosome'sKDM5Cgene, which plays a central role in brain development and behavior. Mutationsin theKDM5Cgene lead to intellectual disabilities and other conditions, particularly in males although females can also be affected.

In 2020, the IDDRC's annual Rare Disease Day event featured a special program in which 12 families with children who have a KDM5C variant came together from around the country and from England to meet for the first time. They learned about recent findings and the RFK IDDRCpartnerships at Montefiore and Einstein that are addressing research and care. Hayden Hatch, an M.D./Ph.D. student at Einstein, spearheaded the effort.

Julie Secombe, Ph.D., professor of genetics and in the Dominick P. Purpura Department of Neuroscience, will lead basic science studies on KDM5C, along with Bryen Jordan, Ph.D., associate professor in the Dominick P. Purpura Department of Neuroscience and associate professor of psychiatry and behavioral sciences. The translational and clinical aspects of the work will be led by Dr. Molholm and Lisa Shulman, M.D., professor of pediatrics at Einstein, interim director of the Rose F. Kennedy Children's Evaluation and Rehabilitation Center (CERC) at the Children's Hospital at Montefiore, and a developmental pediatrician at Montefiore.

Advancing IDD Research and Collaboration

Einstein is one of 15 IDDRCs funded by the NIH and was among the first such centers established in the 1960s. More than 100 researchers study neurodevelopmental conditions including autism spectrum disorders, attention-deficit hyperactivity disorder, Rett and Williams syndromes, Niemann-Pick and other lysosomal storage diseases, neurocutaneous disorders, and infantile and childhood seizures. The RFK IDDRC also has more than 20 clinical partners in neurology and pediatrics.

"We're in the unique position of having many different IDD-focused programs under one roof," said Steven Walkley, D.V.M, Ph.D., co-director of the IDDRC, co-primary investigatoron the grant,professor in the Dominick P. Purpura Department of Neuroscience, of pathology, and in theSaul R. Korey Department of Neurology."In addition to the IDDRC, the Rose F. Kennedy Center includesCERC, which is part of our University Center for Excellence in Developmental Disabilities; the NIH-funded healthcare professional training program known as LEND(Leadership Education in Neurodevelopmental and Related Disabilities); and a postdoctoral fellowship training program. We're truly at the forefront of patient-oriented science both for the Bronx community and beyond."

The new grant also funds the center's four interdisciplinary scientific cores, which support biomedical, clinical, and translational research on IDDs. The cores include resources for clinical phenotyping, epigenetic and genomic analyses, and neural cell engineering and imaging.

The grant, titled "Support for the Rose F. Kennedy IDDRC P50," is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health (1 P50 HD105352-01).

SOURCE Albert Einstein College of Medicine

http://www.einsteinmed.org

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Albert Einstein College of Medicine Awarded $5 Million for Research on Intellectual and Developmental Disabilities - PRNewswire

In January, his doctor, Alexis Thompson of Northwestern University, told him he no longer had sickle cell disease.

It is strange, Mr. Hubbard said, to think he has a future.

I am becoming more serious about life, he said. I didnt think I would have a life.

Helen, too, has been adjusting to life as a healthy person an alteration her pediatric hematologist, Dr. Alexander Ngwube of Phoenix Childrens Hospital, has observed in sickle cell patients cured with bone-marrow transplants.

Remember with sickle cell disease they are hospitalized a lot, he said. There are so many restrictions on their lives. They become depressed and when they are a little older they realize they have a life expectancy of 40 years. They start to think, What is the point of doing anything?

When they are cured, he said, it is almost like the world is theirs to play with.

When Dr. Esrick gave Helen the good news a year ago, Helen lay silent on the exam table, not daring to talk.

Helen and her family have since moved from Lawrence, Mass., to Mesa, Ariz. Ive followed her progress for more than two years. A lifetime of stoicism had taught her to keep her emotions to herself. Through a harrowing monthlong stay in the hospital for the gene therapy, she barely spoke to me. Even after it was completed, she tapped her mother on the arm and pointed when she wanted an ice cream cone as we walked through the Faneuil Hall Marketplace in Boston.

Freed of illness, shes become far more outgoing. On summer weekends, shes ventured to an arcade and a water park, and gone tubing.

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Pioneering Gene Therapy Freed Her of Sickle Cell. Is a Cure at Hand? - The New York Times