EDELIFE Phase II trial explores potential of pioneering prenatal treatment for XLHED

GENEVA and Castres, France, July 1, 2022 /PRNewswire/ --The EspeRare Foundation and the Pierre Fabre group announced today that the first patient in the EDELIFE clinical trial has received the three rounds of injection as planned. The pivotal trial is the first-of-its-kind, as the treatment is given to the XLHED (X-linked Hypohidrotic Ectodermal Dysplasia)-affected baby while inside his mother's womb. The trial intends to confirm the efficacy and safety of ER004 given as a pre-natal treatment to XLHED-affected boys.

EDELIFE A prenatal study for XLHED affected boys

XLHED is a very rare and debilitating congenital disease which affects approximately 4/100,000 live male births every year. This genetic disorder is a dermatologic-related condition which leads to abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity and respiratory mucosal glands resulting in serious clinical manifestations such as hyperthermia, craniofacial anomalies and recurrent respiratory infections.

The EDELIFE clinical trial is a confirmatory study that will investigate the efficacy and safety of intra-amniotic ER004 administrations as a prenatal treatment for male foetuses who have been confirmed to have XLHED. ER004 is a pioneering in-utero therapy designed to replace the function of endogenous Ectodysplasin A1 (EDA1), a protein key to the normal development of ectodermal structures in the foetus. If successful, ER004 has the potentialto become the first approved 'single-course treatment', administered during the second and third trimesters of pregnancy.

"It is an exciting time for the Hypohidrotic Ectodermal Dysplasia community and for prenatal medical research. For the first time, we can hope to correct major symptoms of XLHED for those who are diagnosed before birth," said Caroline Kant, the Co-founder and CEO of the EspeRare Foundation. "We need the support of the XLHED community to ensure that those who may benefit from this unique treatment are aware of the EDELIFE trial."

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A target number of 15 to 20 baby boys with XLHED will be treated within the EDELIFE trial across 8 centres in Europe and the USA. Clinical centres for the study are now open in Germany, France, Italy, Spain, the United Kingdom and will be open shortly in the USA. A dedicated web site (www.EDELIFEclinicaltrial.com) is available for interested families who want to learn more about the clinical trial and the conditions for enrolment. Beyond the initial English version, it will progressively be developed in German, French, Italian and Spanish.

"We are committed to supporting pregnantwomen with a confirmed diagnosis of XLHED in their treatment journey for their unborn baby boys," said Dr Deborah Szafir, Executive Vice President, Head of Medical and Patient Consumer Division at Pierre Fabre. "15 to 20 patients in the clinical trial may seem like a very small number, but given how rare the condition is, it is essential we facilitate the process of enrolment into the study as much as possible. This includes facilitating the pregnant women's travel to a nearby country if there is no investigational site open in their own country. We feel very proud at Pierre Fabre to support those with rare dermatologic diseases as we have already successfully done in infantile hemangiomas".

In the main study phase of the EDELIFE clinical trial, efficacy and safety of approximately 15 treated children will be assessed up to 6 months of age and safety of the mothers will be assessed up to 1 month after delivery. In the long-term follow-up phase, efficacy and safety of the treated children will be assessed up to 5 years of age. The main phase of the clinical study is expected to last until 2025.

The ER004 in XLHED program has received a wide range of regulatory support, including Breakthrough Therapy Designation in 2020 by the US Federal Drug Administration (FDA). Its clinical development also benefits from the European Medical Agency's (EMA) PRIME (PRIority MEdicines) program.

Details also available on http://www.clinicaltrials.gov. Study NCT04980638

About XLHEDXLHED is a severegenetic disorder that affects the structure of the ectoderm, the most exterior part of the three primary germ layers formed during early embryonic life, from which the skin and its appendages are derived. XLHED is caused by mutations in EDA, a gene that encodes an important developmental signalling protein, EDA1. The absence of functional EDA1 in the ectoderm results in abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity, and respiratory mucosal glands.

About ER004ER004 is a pioneering in-utero therapy designed to replace the function of endogenous Ectodysplasin A1 (EDA1), a protein key to the normal development of ectodermal structures in the foetus. ER004 is a recombinant, soluble, and humanized form of EDA1 that is given as a single course treatment and delivered through intra-amniotic injections during the late stage of pregnancy. This approach has already demonstrated a promising potential in humans where it restored sweat gland function in three patients treated in this fashion by Prof. Holm Schneider at the University Hospital Erlangen in Germany. First results were published in the New England Journal of Medicine1 and in the British Journal of Clinical Pharmacology2 as well as featured in Nature Medicine's Research Highlights3.

About the EspeRare foundationEspeRare is a Swiss non-profit organization founded in 2013 that is committed to improve the lives of children with life-threatening rare diseases. EspeRare addresses the unmet medical needs of these children by uncovering the potential of existing treatments. EspeRare's innovative model combines pharmaceutical know-how with philanthropic, public and private investments to develop and bring to life these discontinued therapies. With its unique patient-centred approach to drug development, EspeRare engages the patient community at each step of the process, with the intent of giving children and their families fair access to these therapies and a new hope for the future.For more information, please visit http://www.esperare.org

About Pierre FabrePierre Fabre is the 2nd largest dermo-cosmetics laboratory in the world, the 2nd largest private French pharmaceutical group and the market leader in France for products sold over the counter in pharmacies. Its portfolio includes several medical franchises and international brands including Pierre Fabre Oncology, Pierre Fabre Dermatology, Eau Thermale Avne, Klorane, Ducray, Ren Furterer, A-Derma, Naturactive, Pierre Fabre Oral Care.In 2021, Pierre Fabre generated 2.5 billion in revenues, 66% of which came from international sales.Established in the South-West of France since its creation, the Group manufacturs over 95% of its products in France and employs some 9,500 people worldwide. Its products are distributed in about 115 countries. Pierre Fabre is 86%-owned by the Pierre Fabre Foundation, a government-recognised public-interest foundation, and secondarily by its own employees through an international employee stock ownership plan.Further information about Pierre Fabre can be found at http://www.pierre-fabre.com, @PierreFabre.

References

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Krber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N, Tannert C, Rompel O, Rascher W, Beckmann MW, Schneider P. N Engl J Med 2018; 378: 1604-1610

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects. Krber I, Klein OD, Morhart P, Faschingbauer F, Grange DK, Clarke A, Bodemer C, Maitz S, Huttner K, Kirby N, Durand C, Schneider H. Br J Clin Pharmacol. 2020;86(10):2063-2069

In utero correction of a genetic disorder. Stower H.Nature Medicine 2018; 24: 702

Photo -https://mma.prnewswire.com/media/1851585/edelife.jpgLogo -https://mma.prnewswire.com/media/1688212/Pierre_Fabre_and_EspeRare_Logo.jpg

CONTACTS :EspeRare Foundationfoundation@esperare.org

Pierre Fabreanne.kerveillant@pierre-fabre.com

(PRNewsfoto/Pierre Fabre; EspeRare Foundation)

Cision

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Pierre Fabre and the EspeRare Foundation administer investigational treatment to first patient in EDELIFE clinical trial for rare genetic disease,...

Ibudilast improved cognition and behavior in men with fragile X syndrome in a small clinical trial. The use of the other drug in STP1, bumetanide, in autistic people is cloudier. A 2020 clinical trial found that only some of the children who received bumetanide for three months showed reduced repetitive behaviors, though studies over the past two years have suggested that patterns of electrical activity in the brain or levels of specific immune molecules in the blood can predict a persons response to the drug. Last year, however, phase 3 studies of bumetanide were ended after researchers found no benefit to treatment.

Bumetanide is an excellent drug for autism, provided you select specific subpopulations of young people, says Yehezkel Ben-Ari, president and co-founder of French biotech company Neurochlore, which owns the patent for bumetanide as an autism treatment. Adults, he adds, may not respond as well. The 2020 trial found that younger children showed more improvement in social communication and responsiveness than did older ones.

Many people have hoped for precision medicine, but generally, the field of autism has moved away to some degree. Catherine Lord

Beyond the questions around bumetanide, others doubt that personalized therapy can be applied to autism at all. Many people have hoped for precision medicine, but generally, the field of autism has moved away to some degree, says Catherine Lord, distinguished professor of psychiatry at the University of California, Los Angeles. Thats because, she says, for something as complex and heterogeneous as autism, theres no clear link between known genetic factors and autism traits. Researchers have not yet had success in finding biomarkers for diagnosis of the condition, let alone predicting who is most likely to respond to treatment, she says.

Understanding the more convergent mechanisms of autism, and what is common about people with autism rather than whats different about them, is a more important approach to understanding whats treatable or preventable in the condition, says John Constantino, professor of psychiatry and pediatrics at Washington University in St. Louis, Missouri.

A molecular footprint found only in a subgroup of people with autism may have nothing to do with the condition and instead be related to other factors, such as depression or anxiety, Constantino says. So far, he adds, researchers havent even been able to reliably differentiate people with autism from those without the condition by looking at biological traits. Identifying a biological profile for different autism subtypes would be a significant advance in the field, he says, if Stalicla has actually done it.

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Meet the company trying precision medicine for autism | Spectrum - Spectrum

As a child, geneticist Beth Burton wanted to be a music teacher. At age 6, she started playing piano and later spent years accompanying school choirs in her hometown of Wilmington, Delaware.

But in high school, she took her first biology class, and she was hooked.

More than a decade later, Burton now studies the genetic causes of Alzheimers disease as a Ph.D. candidate in the Perelman School of Medicine. But pivoting to science didnt mean abandoning her art; she earned a bachelors degree in piano and still practices often.

Now in her fourth year, Burton moves through grad school without compromising her love for music, her creativity, or any of the other traits that she says define her. In doing so, she says she hopes to inspire others as she finds her own path to success.

Not long after that first influential biology course, Burton was diagnosed with Ehlers-Danlos syndrome, a genetic disorder that affects the development and function of collagen and can lead to joint pain and digestive issues. Its a rare condition, not well understood and currently without a cure.

The diagnosis only deepened Burtons interest in biology and genetics. Alongside her degree in piano, Burton pursued a bachelors degree in biochemistry and molecular biology at Gettysburg College. Within her first year, she developed an interest in genetic research, so she applied to the Childrens Hospital of Philadelphia Research Institutes Summer Scholars Program.

There she began working with Struan Grant, a professor of pediatrics who researches the genetic causes of disease and disorder. Her experience in Grants lab the summer before sophomore year confirmed that she had made the right choice. I just loved the culture; I loved how collaborative everyone was, says Burton. I had a fantastic 10 weeks in lab.

She returned the next summer. And the summer after that.

When she finally graduated from Gettysburg in May 2018, she knew that she wanted to pursue a Ph.D. in genetics and to do it at Penn. That fall, she started at the Perelman School of Medicine. During her first year, she spent some time in the lab of Christopher Brown, a professor of genetics who, like Grant, researches how mutations in certain genes may cause disease. Together, the three of them developed a new project that would use genetics to understand the causes of Alzheimers disease.

Alzheimers is the sixth leading cause of death in the United States and the only one in the top 10 without a cure or effective treatment. By studying differences in the genes of people with and without Alzheimers, Burton wants to help change that.

In order to do so, she heads to the lab. She takes microglia, the brains immune cells, with the genetic variations for Alzheimers, then edits out a variation of interest. By observing the differences between the edited and unedited cells, Burton can determine whether the genetic variation was implicated in Alzheimers, offering potential targets for drugs and treatments in the long term.

For now, Burton is still on the hunt, narrowing her search to a few sections of DNA that she has strong evidence are associated with causing Alzheimers. Even at this stage, Grant says that the methods Burton has developed to connect genes to disease might work for all kinds of genetic health issues, from diabetes and obesity to sleep and bone disease.

What we learn from her deep dive on a particular genetic signal will really inform research beyond Alzheimers, says Grant.

Even while investigating the causes of the disease, Burton has refused to let unique aspects of herself take a back seat. In her day-to-day and on social media, Burton is vocal about her experience with Ehlers-Danlos syndrome. In part, this serves as a gentle nudge to peers in the scientific community. Scientists want to help, but it can be so easy to just talk about genetic disorders in scientific jargon and forget that were studying things that affect real people, says Burton. Im one of those real people.

Burton says she hopes that being open about her own struggles might help others believe that they have a place in science regardless of their physical limitations.

For similar reasons, Burton speaks freely about her identity as a bisexual woman. Burton says she knew from a young age that she wasnt only attracted to boys, but didnt make sense of what that meant until college, when she encountered people like her who identified as bisexual.

Seeing those people out and open with their experiences is what helped me to figure out my identity, she says. If I can be that person for someone else, that would make it all worth it.

After finishing her Ph.D., Burton plans to pursue a postdoctoral fellowship. Ultimately, she wants to become a professor in genetics and run a research lab.

While working toward her professional goals, Burton plans to enjoy the rest of her time at Penn doing what she loves: Spending time with friends, petting her rabbit, Mr. Penguin, and unwinding at the piano, a passion that influenced her time in lab, Grant says. Beth is very artistic. She cant help but bring her creativity to research.

Often, after a long day in lab, Burton goes back home and sits at the piano, where she can turn back to her first love.

At night, I can just play whatever, she says. The music has given me a lot.

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Identities in harmony | Penn Today - Penn Today

Like many neurological diseases, theres a lot we dont understand about fragile X syndrome. But, after studying the disorder for several years, Lynne Maquats lab knew two important things: the enzyme AKT, which plays a key role in cell growth and survival, and the quality control pathway known as NMD (nonsense-mediated mRNA decay), are both in overdrive in fragile X.

In a new study in the journal Molecular Cell, the team reveals how these two major players interact, highlighting a complex molecular dance that could inform the development of future treatments for fragile X syndrome.

Two paths to pursue

AKT is a hub for cell signaling, helping cells communicate about important processes like cell growth, proliferation and protein production. When cells are stressed for example, in cancer, diabetes, heart disease and neurological disorders, including fragile X AKT can send too many (or too few) signals or messages as part of a cell survival mechanism.

NMD is like a molecular guide that helps our cells make smart decisions that (in most cases) improve cellular function and contribute to good health. For example, NMD supports gene expression by flagging and destroying mRNAs (messenger RNAs) that are carrying faulty genetic instructions that could lead to disease. It also helps our cells adjust to changes in development and in their environment, andmore rapidly respond to certain stimuli.

Co-lead study authors Hana Cho, Ph.D., and Elizabeth Abshire, Ph.D., discovered how AKT and NMD interact in the context of fragile X:

Drug double whammy

Taking these findings a step further, the team treated the neural stem cells that mimic fragile X syndrome with a drug called Afuresertib, which inhibits AKT and is currently being tested in phase 1 and 2 clinical trials for several types of cancer. They found that blocking AKT in the fragile X cells not only decreased its activity, but decreased NMD, as well. The cells acted more like typical, non-disease cells when AKT was inhibited.

Normalizing two major pathways that contribute to fragile X syndrome is an exciting development, and using a drug that has already been through early clinical trials and that has been shown to be safe in patients puts us a step ahead, as opposed to starting from scratch with a brand new molecule, says Abshire, a postdoctoral fellow in the Maquat lab. There is still a lot we dont know about how AKT and NMD interact, because they are both massive pathways that influence and regulate multiple activities in cells, but this work provides good direction.

Next steps in the research include taking drugs like Afuresertib and testing them in a mouse model of fragile X to determine if what the team found in cells (AKT goes down and NMD goes down) also occurs in a living organism.

Drilling down on disease mechanism

AKT is stimulated or spurred into action by insulin. This study is the first to show that extracellular signaling (something that happens outside the cell, like an increase in insulin) changes the identity of a mark called the exon junction complex or EJC. Discovered by Lynne E. Maquat, Ph.D., founding director of the Center for RNA Biology at the University of Rochester, the EJC promotes NMD when certain conditions are met. Cho and Abshire showed that AKT is unexpectedly a member of the complex of proteins that constitute the EJC, which is important for normal gene expression.

By revealing a new mechanism by which AKT-signaling alters NMD and gene expression, we have a more complete understanding of disease mechanism. The more we know about this important signaling pathway, the more we can think about targets to suppress its hyperactivity, said Maquat, corresponding study author and the J. Lowell Orbison Endowed Chair and Professor ofBiochemistry and Biophysicsat the University of Rochester School of Medicine and Dentistry.This adds another aspect to how we can understand dysregulated pathways in diseases like fragile X and cancer when we are thinking about drugs.

In the study, the team also details a new tool that they developed for screening potential drugs that inhibit NMD, which is hyperactivated in fragile X and a number of cancers.

In addition to Maquat, Cho and Abshire, Maximilian W. Popp and Christoph Prschel, also of the University of Rochester School of Medicine and Dentistry, and Joshua L. Schwartz and Gene W. Yeo, of the University of California-San Diego, contributed to the research. The research was funded by an R01 to Maquat and an R21 to Prschel, both from the National Institutes of Health, and by a University of Rochester Provosts award to Maquat and Prschel.

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Double Duty: Early Research Reveals how a Single Drug Delivers Twice the Impact in Fragile X - URMC

CAMBRIDGE, Mass., June 02, 2022 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. ( SRPT), the leader in precision genetic medicine for rare diseases, today announced the appointments of Michael Chambers and Kathryn Boor, Ph.D., to its Board of Directors. Both Mr. Chambers and Dr. Boor bring distinct and invaluable experience to the Sarepta board that will help guide the company on its mission to change the course of life-threatening rare diseases.

Were pleased to welcome two new board members whose participation will contribute to the realization of Sareptas strategic vision to create transformative therapies for patients with rare diseases, said M. Kathleen Behrens, Ph.D., Chairperson of Sareptas Board of Directors.

Mr. Chambers appointment brings tremendous bioscience and entrepreneurial leadership, along with deep expertise in areas of fundamental importance to genetic medicine innovators. Dr. Boor, in addition to her scientific and academic credentials, is an expert in environment, sustainability and governance, a topic of significant importance to Sarepta, said Doug Ingram, Sareptas president and chief executive officer. These new appointments add to the diversity of experience and perspective on our Board, providing outstanding leadership as we work with the greatest urgency to bring innovative genetic medicines to patients.

Mr. Chambers co-founded Aldevron, based in Fargo, N.D., in 1998, and served as its chief executive officer for more than 20 years before serving as Executive Chairman of the Board until 2021 when Aldevron was acquired for $9.6 billion. As founder, Chambers oversaw the growth of Aldevron into a world-class service organization, specializing in nucleic acid and protein production, antibody development, and custom services with operations in the United States and Europe. Chambers currently serves on the Board of Directors at Calviri, Inc.

In 2018, Chambers was named one of the 100 Most Intriguing Entrepreneurs by Goldman Sachs. He earned his bachelors degree in biotechnology, microbiology, and chemistry from North Dakota State University.

Dr. Boor is the Dean of the Graduate School and Vice Provost for Graduate Education at Cornell University. Previously, Dr. Boor served as the Ronald P. Lynch Dean of the College of Agriculture and Life Sciences (CALS) at Cornell. She earned a bachelors degree in food science from Cornell University, a masters degree in food science from the University of Wisconsin and a Ph.D. in microbiology from the University of California, Davis. She joined the Cornell Food Science department as assistant professor in 1994, became its first tenured female faculty member in 2000, and led as department chair from 2007-2010.

Dr. Boor serves on the Board of Directors for Seneca Foods Corporation, International Flavors and Fragrances, the United States-Israel Binational Agricultural Research and Development (BARD) Fund, and the Foundation for Food and Agriculture Research (FFAR).She serves on the Science Board for the US Food and Drug Administration and on the New York State Southern Tier Regional Economic Development Council.

About Sarepta TherapeuticsSarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA and gene editing. For more information, please visit http://www.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of InformationWe routinely post information that may be important to investors in the 'For Investors' section of our website at http://www.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Forward-Looking StatementsThis press release contains forward-looking statements. Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements related to Sareptas mission to change the course of life-threatening rare diseases and the potential benefits of the additions of Dr. Boor and Michael Chambers to Sareptas Board.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: Sarepta may not be able to execute on its business plans, including meeting its expected or planned regulatory milestones and timelines, clinical development plans, and bringing its products to U.S. and ex-U.S. markets for various reasons including possible limitations of Company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, and regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2021, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by the Company which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect the Companys business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof, except as required by law.

Source: Sarepta Therapeutics, Inc.

Investor Contact: Ian Estepan, 617-274-4052[emailprotected]

Media Contact: Tracy Sorrentino, 617-301-8566[emailprotected]

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Sarepta Therapeutics Appoints Michael Chambers and Kathryn Boor, Ph.D., to Its Board of Directors - GuruFocus.com

What will the future of medicine look like? Will we manage to cure cancer? Will lab-grown organs render human donation obsolete? Is a widespread uptake of the male contraceptive wishful thinking or a futuristic possibility? Some things seem to be more predictable than others.

What we do know is that medical care will be increasingly personalized, digital and data-driven.

Follow the latest news and policy debates on agricultural biotech and biomedicine? Subscribe to our newsletter.

In the wake of the Covid-19 pandemic, we had a taster of how smartphones and computers could be harnessed to anticipate outbreaks of infectious disease. These technologies will play an important role in the future. As well as carrying technologies externally, we will also likely see patients wearing them internally too.

The use of sensors called smart bodies, which are connected to the internet and reside inside the body, will likely play an important role in feeding back physiological information, such as blood pressure.

Medical science will hold DNA sequencing data for tens of millions of patients, and this will better our understanding of disease. Moving toward the mid-century point, it is predicted that there will be routine DNA sequencing for every newborn baby. In the coming years, individual patient DNA analysis will likely enable the personalization of drug therapeutic approaches.

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Medicine of the future: From high-tech health sensors to advanced gene therapy, here are the innovations we can expect in the decades ahead - Genetic...

BOSTON--(BUSINESS WIRE)--Carbon Biosciences (Carbon), a Longwood Fund founded biotech company and emerging leader in the development of novel parvovirus-derived gene therapies, today announced a $38 million Series A financing led by Agent Capital. Agent is joined by Longwood Fund, Astellas Venture Management LLC, the Cystic Fibrosis Foundation, Solasta Ventures, University of Tokyo Innovation Platform (UTokyoIPC), and Camford Capital. Carbon is harnessing novel parvovirus vectors that can deliver larger gene therapy payloads with enhanced tissue specificity and with minimal neutralizing immunity. The company plans to use the Series A funding to advance the development of Carbons programs for genetic diseases, initially building on the groundbreaking research of scientific co-founders John F. Engelhardt, Ph.D., Director, Center for Gene Therapy at the University of Iowa, and Robert M. Kotin, Ph.D., Professor of Microbiology and Physiological Systems at the University of Massachusetts Chan Medical School.

Carbons platform has the potential to expand the role of gene therapy in treating some of the worlds most devastating and difficult to treat diseases, said Joel Schneider, Ph.D., President and CEO of Carbon Biosciences. Our vision is to enable a new generation of genetic medicines with differentiated vectors that have the potential to address the immunological, targeting and payload limitations inherent in current viral and non-viral delivery technologies. As the first jointly funded program launched under a collaborative agreement between the Cystic Fibrosis Foundation and Longwood Fund, we are motivated by the potential impact our research may have in significantly improving care for cystic fibrosis patients.

Identifying vectors that can effectively deliver therapeutics to target tissues, such as the lung, has been a major challenge in realizing the full potential of gene therapy, said Geeta Vemuri, Ph.D., Managing Partner and Founder of Agent Capital. We believe that Carbon's proprietary platform can address this challenge by leveraging novel vectors from the broader parvovirus family to deliver optimal payloads to specific tissues. Carbons technology will enable a diversified pipeline with potential applications across the wide range of tissues impacted in many unaddressed diseases.

Carbons novel platform addresses key challenges with AAV and non-viral based therapies. Our lead program is the first gene therapy program demonstrating tissue tropism to the lung with the capacity to deliver the full length CFTR gene and an appropriate promotor, said John F. Engelhardt, Ph.D., the Roy J. Carver Chair in Molecular Medicine, and Director, Center for Gene Therapy at the University of Iowa. Preliminary pre-clinical data as well as studies on human populations suggest wide applicability of our lead clinical candidate and the potential to re-dose patients.

Carbons scientific co-founders and scientific advisory board members are among the most experienced thought leaders in the gene therapy field. In addition to Kotin and Engelhardt, Carbons co-founders are David Steinberg, who served as founding CEO (Longwood Fund); Jianming Qiu, Ph.D., (University of Kansas); Ziying Yan, Ph.D., (University of Iowa); Sebastian Aguirre, Ph.D., (Carbon Biosciences); and Lucy Liu, Ph.D., (Longwood Fund). Carbons Scientific Advisory Board consists of John Engelhardt; Jay Chiorini Ph.D., Senior Investigator at NIH National Institute of Dental and Craniofacial Research; Beverly Davidson, Ph.D., Chief Scientific Strategy Officer at Childrens Hospital of Philadelphia; and Adrian Thrasher, Ph.D., MBBS, FRCP, MRCP, Professor at University College London (UCL), Great Ormond Street Institute of Child Health, Head of Infection and Inflammation and Director, Clinical Gene Therapy GMP Facility at UCL.

In conjunction with the financing, Joel Schneider, Ph.D, joins as President and CEO. Chen Schor, Adicet Bio President and CEO, joins as Board Chair. David Steinberg, Geeta Vemuri, Robert Kotin and Derek Yoon, President and CEO of Solasta Ventures, join the Board of Directors.

About Carbon Biosciences

Carbon Biosciences is expanding the therapeutic potential of gene therapy through its proprietary platform which leverages novel parvoviruses that have been pressure tested by nature to target specific tissues and carry a larger cargo with minimal neutralizing immunity and the potential to re-dose. Founded by Longwood Fund and gene therapy pioneers, John F. Engelhardt, Ph.D., and Robert M. Kotin, Ph.D., Carbon is expanding the gene therapy toolbox for the treatment of the worlds most devastating and difficult to treat diseases. For more information, please visit our website http://www.carbonbio.com and follow us on LinkedIn.

About Longwood Fund

Longwood Fund is a venture capital firm dedicated to creating and investing in novel healthcare companies that develop important treatments to help patients while targeting significant value for investors. The Longwood team has a long history of successfully launching and building important life science companies while providing operational leadership and strategic guidance. Collectively, the Partners at Longwood Fund have co-founded 24 companies with over 20 launched or marketed drugs and therapies, as well as over two dozen clinical stage assets, all focused on helping patients in need. Companies founded by Longwood Fund, or its principals prior to the founding of the Firm, as lead investor and CEO/CBO include Vertex, Acceleron, Momenta, Alnylam, Sirtris, Vor, TScan, Pyxis Oncology, Immunitas, Be Biopharma, ImmuneID, Tome Bio, Photys, and Carbon Biosciences. For more information, visit http://www.longwoodfund.com.

About Agent Capital

Agent Capital is an international life sciences investment firm that supports disruptive healthcare companies focusing on novel, differentiated therapeutics and treatments that address unmet patient needs. Agent Capital aligns with scientists, entrepreneurs, and other investors to develop the next generation of healthcare innovations, leverages their industry expertise and successful track record to source premier deals, accelerate value, and drive successful exits. Their first fund invested in 15 portfolio companies, the majority of which have executed collaborations with major pharmaceutical companies and successfully raised additional capital in the private or public markets. For more information, please visit Agent Capital's website at http://www.agentcapital.com.

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Carbon Biosciences Launches with $38 Million Series A Financing to Advance Novel Gene Therapy Platform and Pipeline - Business Wire

We are all mirrors of our parents. We inherit their DNA, behaviour patterns, world view, dreams and even fears. However, over the years, several studies have corroborated that biologically speaking, fathers genes are more dominant and influential in a child, compared to the mother.

According to health experts, your fathers genetic endowment determines some of the most fundamental aspects of your being. On this Fathers day, find out more about your fathers contribution to who you are.

Dr Parag Tamhankar, Senior Consultant Medical Geneticist from MedGenome Labs says that the main thing thats inherited from the father is the Y chromosome which gives a child the maleness traits.

Apart from maleness, several other factors of a fathers genes determine how we shape up. Dr Gouri Pandit, Senior Genetic Counsellor, Indus Health Plus says that several physical traits of ours are inherited from the father.

Fathers are responsible for the gender of the babies, and its one of the physical traits that are 100% contributed by males as fathers transmit the Y chromosome defining the male gender. At least 700 genetic variations are responsible for determining height, coming from both mother and fathers genes. But there is evidence to suggest that each parents height gene functions differently to some extent. Dads genes play a significant role in promoting growth, adds Pandit.

Dr Anup Rawool, Consultant - Genetic Medicine,

Interestingly paternal obesity, malnutrition and consumption of a high-fat diet has been speculated to increased breast cancer development in offspring (daughters in particular) and same has been demonstrated in a mouse model study of paternal obesity. When considering genetic disease conditions due to the loss (or abnormality) of Y chromosome has been associated with increased risk of infertility secondary to spermatogenic failure, certain cancers, Alzheimer's disease, behavioural conditions like autism and cardiovascular diseases, he explained.

Mouse study using machine learning have shown that genes from each parent impacts their childs behavioural pattern differently, with mothers having more control over some of their sons decisions and fathers over some of their daughters. It is interesting to see further how such data could be applied to study aspects of human behaviour and relationship. Certainly, daughters are usually observed to share a strong bond with father than mother.

New research will keep pouring in and add to the existing domain of knowledge. Physical traits are mostly inherited in polygenic and multifactorial way with underlying genetic component having a significant if not total impact. We are what we inherit - be it from the father or mother. This Fathers Day lets raise a toast to the legacy of Y chromosome since time immemorial.

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Happy Fathers Day: From biological sex, height to paternal obesity & cancers, here are things that your d - Economic Times

PITTSBURGH and CAMBRIDGE, Mass., May 12, 2022 (GLOBE NEWSWIRE) -- NeuBase Therapeutics, Inc. ( NBSE) (NeuBase or the Company), a biotechnology platform company Drugging the Genome to address disease at the base level using a new class of precision genetic medicines, today reported its financial results for the three-month period ended March 31, 2022, and other recent developments.

We are pleased with the progress being made across our development pipeline of therapeutic programs to treat DM1, HD, and KRAS-driven cancers. The new data weve announced to date this year have further validated the use of our PATrOL platform to design novel genetic medicines that target and rescue gene dysfunctions, with the potential for clinically impactful outcomes in both rare and common diseases, said Dietrich A. Stephan, Ph.D., Founder, Chief Executive Officer, and Chairman of NeuBase. We continue to execute the development strategy for our DM1 program, which includes a series of IND-enabling studies scheduled to report data throughout CY2022. Last quarter, we presented pharmacodynamic data that illustrated a single intravenous (IV) dose or multiple subcutaneous (SC) doses of our DM1 development candidate resolves the genetic defect and myotonia in skeletal muscle of the gold-standard mouse model of the disease. Building off these results, we plan on announcing at ASGCT additional pharmacokinetic (PK) data, which will illustrate the exposure levels of our development candidate when administered via systemic administration in skeletal muscles, heart, and brain, tissues that are affected in DM1. We expect these data to support further advancement of our lead candidate for DM1 and validate a differentiated whole-body solution for this disease. Considering this progress, we believe the submission of an IND application to the FDA is on track for the fourth quarter of CY2022.

Second Quarter of Fiscal Year 2022 and Recent Operating Highlights

Financial Results for the Second Fiscal Quarter Ended March 31, 2022

Financial Results for the Six-Month Period Ended March 31, 2022

About NeuBase TherapeuticsNeuBase is accelerating the genetic revolution by developing a new class of precision genetic medicines that Drug the Genome. The Companys therapies are built on a proprietary platform called PATrOL that encompasses a novel peptide-nucleic acid antisense oligonucleobase technology combined with a novel delivery shuttle that overcome many of the hurdles to selective mutation engagement, repeat dosing, and systemic delivery of genetic medicines. With an initial focus on silencing disease-causing mutations in debilitating neurological, neuromuscular, and oncologic disorders, NeuBase is committed to redefining medicine for the millions of patients with both common and rare conditions, who currently have limited to no treatment options. To learn more, visit http://www.neubasetherapeutics.com.

Use of Forward-Looking StatementsThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act. These forward-looking statements are distinguished by use of words such as "will," "would," "anticipate," "expect," "believe," "designed," "plan," or "intend," the negative of these terms, and similar references to future periods. These forward-looking statements include, among others, those related to the plan to provide updates on the Company's development pipeline, in particular the DM1 program, at the ASGCT 25th Annual Meeting, the potential and prospects of the Companys proprietary PATrOL platform and DM1 program, the Companys expectation that it will submit an IND application for the DM1 program to the U.S. Food and Drug Administration in the fourth quarter of CY2022, our expectations to initiate scale-up and toxicology activities for development of a systemically administered allele-selective NT-0100 program to treat HD in CY2022, the potential of our therapeutic program for HD and the potential for our PATrOL-enabled compounds to silence activating KRAS point mutations in vivo to inhibit protein production. These views involve risks and uncertainties that are difficult to predict and, accordingly, our actual results may differ materially from the results discussed in our forward-looking statements. Our forward-looking statements contained herein speak only as of the date of this press release. Factors or events that we cannot predict, including those risk factors contained in our filings with the U.S. Securities and Exchange Commission, may cause our actual results to differ from those expressed in forward-looking statements. The Company may not actually achieve the plans, carry out the intentions or meet the expectations or projections disclosed in the forward-looking statements, and you should not place undue reliance on these forward-looking statements. Because such statements deal with future events and are based on the Company's current expectations, they are subject to various risks and uncertainties, and actual results, performance or achievements of the Company could differ materially from those described in or implied by the statements in this press release, including: the Company's plans to develop and commercialize its product candidates; the timing of initiation of the Company's planned clinical trials; the risks that prior data will not be replicated in future studies; the timing of any planned investigational new drug application or new drug application; the Company's plans to research, develop and commercialize its current and future product candidates; the clinical utility, potential benefits and market acceptance of the Company's product candidates; the Company's commercialization, marketing and manufacturing capabilities and strategy; global health conditions, including the impact of COVID-19; the Company's ability to protect its intellectual property position; and the requirement for additional capital to continue to advance these product candidates, which may not be available on favorable terms or at all, as well as those risk factors contained in our filings with the U.S. Securities and Exchange Commission. Except as otherwise required by law, the Company disclaims any intention or obligation to update or revise any forward-looking statements, which speak only as of the date hereof, whether as a result of new information, future events or circumstances or otherwise.

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NeuBase Therapeutics Reports Business Update and Financial Results for the Second Quarter of Fiscal Year 2022 - GuruFocus.com

$25 Million Gift to Establish the Armellino Center of Excellence for Williams Syndrome at Penn Medicine

With a vision to strategically bridge the gap between pediatric and adult care for individuals with Williams Syndrome, a $25 million gift fromMichael R. Armellino, W61, will establish the Armellino Center of Excellence for Williams Syndrome at Penn Medicine. The center will serve as a model for coordinated care across the lifespan and provide social support and pioneering research for individuals with the genetic condition.

Williams Syndrome, which iscaused by deletions on chromosome 7q11, affects one in every 7,500 people.Children with Williams Syndrome generally have unusual social abilities while also navigating intellectual disability, anxiety, executive function challenges, predisposition for cardiovascular and metabolic disease, and a variety of other medical conditions. Seeking to develop a comprehensive program that meets the needs of patients with Williams Syndrome and their families throughout all stages of life, Penn Medicine will collaborate closely with Childrens Hospital of Philadelphia (CHOP), which is home to one of the largest Williams Syndrome clinics in the country, to enhance clinical and social services and advance scientific discovery toencompass the social, psychological, genetic, metabolic, and clinical complexity of Williams Syndrome.

Mr. Armellino,a resident of New Jersey who is retired after a long career at Goldman Sachs, has three sons and seven grandchildren. His partner, Beverly Karch, has a granddaughter, Maelyn, who is living with Williams Syndrome, as well as a grandson.

Maelyn, along with her younger brother and my grandchildren, are the lights of my life, Mr. Armellino said. I am so impressed by Maelyns parents Jenna and Corey, and all the parents Ive met who are part of the Williams Syndrome community. This gift is my way to advance genetic research and to help create a bright future for individuals with Williams Syndrome.

The new Armellino Center aims to ensure robust and expanded clinical experiences for individuals with Williams Syndrome that exceed the current standard of care. This will include integrated lifelong clinical care, behavioral health and executive function support, and social services coordination. The center will also spearhead basic, translational and clinical research on Williams Syndrome.

The Armellino Center of Excellence for Williams Syndrome will be a hub and international model for clinical care and research but, most importantly, it will be a welcoming home forthose touched by this condition, saidJ. Larry Jameson,executive vice president of the University of Pennsylvania for the Health System and dean of the Perelman School of Medicine.Individuals with Williams Syndrome face physical and intellectual challenges, coupled with a complex and uneven clinical care landscape. Long into the future, this generous gift will pave the way for improved care and scientific breakthroughs that will help us better care for individuals with Williams Syndrome, creating the highest possible quality of life for this community.

Penn Medicine and CHOP are the ideal places to integrate clinical care and biomedical research for Williams Syndrome across the lifespan. The new center will be overseen byDaniel J. Rader,chair of the department of genetics and chief of the division of translational medicine and human genetics in the department of medicine at the Perelman School of Medicine. Dr. Rader also serves as chief of the division of human genetics in the department of pediatrics at CHOP, where the Williams syndrome clinic is directed bySanmati Cuddapah.

Ive dedicated my career to stimulating collaborations that bring together some of the best clinicians and scientists from various disciplines to focus on common goals, Dr. Rader said. Combining our passion for excellent care and discovery with the enthusiastic Williams Syndrome community will lead to more support, advocacy andhopefullymore answers than ever before.

Jocelyn Krebs, former president of the Board of Trustees of the Williams Syndrome Association and a researcher who studied a gene in the Williams Syndrome deletion before having a child of her own with Williams Syndrome, is helping to launch the Armellino Center. An international recruitment process for a founding director of the Armellino Center is actively underway.

CHOP and Penn Medicine have a long history of collaboration to provide a continuum of care for patients with rare conditions like Williams Syndrome, saidJoseph W. St. Geme,Physician-in-Chief, Chairman of the department of pediatrics, andthe Leonard and Madlyn Abramson Endowed Chair in Pediatricsat CHOP. Our multispecialty Williams Syndrome clinic has provided critical services for many pediatric patients, and this new center will allow us to meet all of their care needs as they transition from childhood through adulthood.

The Williams Syndrome deletion on chromosome 7q11 includes 27 genes, but the effect of the deletion of most of these genes is not understood. Scientific discovery through the center will deepen understanding of the roles of multiple genes underlying Williams Syndrome, will accelerate translational research in novel diagnostics and therapeutics for Williams Syndrome, and will permit the detailed study of individuals with Williams Syndrome throughout the lifespan. Rapid scientific advances present major opportunities to gather and analyze data in new ways, allowing researchers to better understand how deletion of specific genes leads to particular Williams Syndrome symptoms and point to new pathways for therapeutic development.

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$25 Million Gift to Establish the Armellino Center of Excellence for Williams Syndrome at Penn Medicine - UPenn Almanac