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Rett Syndrome Research Trust

Rett Syndrome Research Trust Establishes Translational Medicine Advisory Board

Four nationally prominent leaders in medical research join the advisory board to advance progress toward a cure for Rett Syndrome

The Rett Syndrome Research Trust has established a Translational Medicine Advisory Board to provide new strategic direction for its CURE 360 agenda and open new avenues of innovative research that can be applied to Rett Syndrome. Four internationally recognized leaders in the field of medical research have joined the advisory board, all of whom have significant, broad academic and industry experience and are actively working on translating basic science advances into patient care.

“It’s so important for us to stay on the cutting edge and understand the ever-evolving research landscape,” said Monica Coenraads, Chief Executive Officer of the Rett Syndrome Research Trust. “The Translational Medicine Advisory Board will help us focus our resources on the most promising areas of research, facilitate introductions to scientists and biopharma companies working on impactful new therapeutic approaches and technologies, and bring us closer to a cure.”

While there have been exciting advances in reversing Rett Syndrome in animal models of the disorder, the challenge is translating that success into therapies for people.

“We are very grateful that these distinguished leaders have joined us. They share our passion and urgency and are dedicated to working with us to advance the development of therapeutics targeting the root cause of Rett Syndrome,” said Dr. Randy Carpenter, Chief Medical Officer of the Rett Syndrome Research Trust.

Members of the new advisory board:

Steven E. Hyman, M.D. is a Core Institute Member and Director of the Stanley Center for Psychiatric Research at the Broad Institute of Harvard and MIT. The Center conducts global, large-scale genetics studies and neurobiological investigations to identify biomarkers and promising therapeutic targets. He is also a Harvard University Distinguished Service Professor of Stem Cell and Regenerative Biology. Dr. Hyman is the former Harvard University Provost and past director of the National Institute of Mental Health, where he led funding for neuroscience and emerging genomic technologies.

Paul Nioi, Ph.D. is Vice President of Discovery and Translational Research at Alnylam Pharmaceuticals, where he oversees research spanning numerous disease areas including cardiometabolic, renal and neurological disorders. He also leads the human genetics and biomarker teams. Alnylam has pioneered the translation of RNA interference from a Nobel Prize-winning discovery into a new class of approved medicines. As a seasoned biotech and pharmaceutical industry executive, Dr. Nioi has extensive experience in the discovery, development and approval of novel therapeutics.

Philip Reilly, M.D., J.D. is a venture partner at Third Rock Ventures. Trained in internal medicine and clinical genetics, he has deep expertise in launching companies to develop breakthrough therapies for rare genetic disorders. He was instrumental in creating two gene therapy companies, bluebird bio and Voyager Therapeutics. He serves on the advisory board for the Boston University School of Public Health. Dr. Reilly has published seven books, three of which are on rare genetic disorders.

Paul Wang, M.D. is Deputy Director of Clinical Research for the Simons Foundation and was previously Senior Vice President and Head of Medical Research at Autism Speaks. Dr. Wang is a developmental-behavioral pediatrician who transitioned from patient care at the Children’s Hospital of Philadelphia to industry where he served, among other roles, as Senior Director of Clinical Development at Pfizer, and Vice President for Clinical Development at Seaside Therapeutics. He has designed and directed some of the largest clinical trials for children with Fragile X syndrome and autism.


“It is an honor to work with such distinguished colleagues on this advisory board; it is also a productive and very meaningful endeavor because of the intense commitment and unusually strong scientific sophistication of the Rett Syndrome Research Trust’s leadership,” said Dr. Hyman.

Rett Syndrome is a serious, lifelong neurological disorder resulting from alterations in a gene called MECP2. The gene makes a protein that is abundant in brain cells and controls the activity of many other genes. The disorder affects about 350,000 individuals worldwide.

Disease symptoms usually appear between 12 and 18 months of age and can include loss of speech, respiratory problems, motor deficits, seizures, and gastrointestinal and orthopedic issues. No cure exists, but studies in mice suggest that restoring healthy MECP2 protein function may dramatically reverse the condition.

The Rett Syndrome Research Trust has been laser-focused since its founding in 2008 on advancing research that will lead to a cure. A recently launched initiative, CURE 360, intensely focuses on six approaches that attack the disorder at its genetic core: gene replacement, gene editing, MECP2 reactivation, RNA editing, RNA trans-splicing, and protein replacement. CURE 360 also ensures that the research incubated at the Rett Syndrome Research Trust moves into biopharma for advancement to clinical trials.

Thanks to the fundraising and support of affected families and their networks, the Rett Syndrome Research Trust can pursue this research strategically and aggressively.

“We look forward to working with – and tapping into the knowledge of our Translational Medicine Advisory Board members, and are certain that with their expertise, we can accelerate our mission. We are incredibly appreciative and thank them for sharing their time and talents with us,” said Coenraads.

About the Rett Syndrome Research Trust
The Rett Syndrome Research Trust (RSRT) is a nonprofit organization with a highly personal and urgent mission: achieving a cure for Rett Syndrome and related disorders caused by defects in the MECP2 gene. The RSRT funds and spearheads global scientific and clinical activities advancing the most promising curative approaches. To date, every biopharma company pursuing a cure for Rett Syndrome is doing so because they leveraged discoveries and resources incubated with RSRT funding. To learn more, please visit www.reverserett.org.

About Rett Syndrome
Rett Syndrome is a genetic neurodevelopmental disorder that predominately affects girls. Its symptoms strike typically between 12 to 18 months of age. The disorder is caused by random mutations in the MECP2 gene on the X chromosome. Rett Syndrome is devastating, as it deprives young children of speech, hand use, and normal movement, leaving many individuals without the ability to walk or communicate. Symptoms can also include stress and anxiety, seizures, tremors, breathing difficulties, scoliosis, and severe gastrointestinal issues. Although most children survive into adulthood, every aspect of their daily living requires support. The impact on families and the health care system for specialists, corrective surgeries, therapies, and long-term care is significant.