Exceptional Group of Scientific Leaders to Guide Foundation’s Research Investment
As Rettsyndrome.org’s Chief Science Officer, a physician, and a mom to a teenager with Rett syndrome, I am dedicated to overcoming the challenges presented by Rett syndrome’s complexity on the research front. Recognizing that the best way to do this is to have input from a diverse team of experts, I have engaged a group of luminaries who will join Rettsyndrome.org’s Scientific Advisory Board (SAB). The purpose of this Board is to guide our Foundation’s investment in Rett syndrome research. The members of this exceptional group of scientific leaders come from different research backgrounds. Some members have a long history of making breakthroughs in Rett syndrome science. Some possess deep expertise in aspects of biology needed to better understand and provide a fresh perspective on Rett syndrome. Others have an established track record of successful drug and therapeutic development. I am honored that they have committed to sharing their hard-earned knowledge to help guide our efforts. I’m extremely excited about what we will accomplish together!
On behalf of our Board of Directors I would like to welcome the following individuals to our Scientific Advisory Board:
Dr. Huda Zoghbi, M.D. is the director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, a Professor at Baylor College of Medicine, and an Investigator with the Howard Hughes Medical Institute. She first saw a patient with Rett syndrome in the clinic in the early 1980s, publishing her first paper in the NEJM in 1985. Since then, she has committed to both clinical and laboratory investigations of Rett syndrome. In 1999, Dr. Amir, a postdoc in Dr. Zoghbi’s lab, identified that MECP2 is the causative gene for Rett syndrome. Since then, Dr. Zoghbi has continued her research in understanding MECP2, Rett syndrome, and other MeCP2-related disorders.
Dr. James Eubanks, Ph.D. is a Senior Scientist and Research Division Head at Krembil Research Institute, at the University Health Network in Toronto. Dr. Eubanks has been involved in Rett syndrome research and RSO for more than a decade, guiding the areas of research for grant requests, reviewing grant applications, and guiding the strategic plan of RSO. His lab studies the influence of epigenetic factors on neuronal function. His work has ranged from development of transgenic mice to working in drug discovery. Dr. Eubanks was previously a recipient of a grant from RSO, which provided the pilot data allowing him to be the recipient of a DoD CDMRP grant as well as a grant from the Canadian Institutes of Health.
Dr. Qiang Chang, Ph.D. is a neuroscientist and the Director of the Waisman Center at the University of Wisconsin-Madison. Dr. Chang began studying mouse models of Rett syndrome as a post-doc in Dr. Rudolf Jaenisch’s lab at MIT and Rett syndrome has continued to be a central focus of his lab. His lab studies neuronal activity-induced MeCP2 phosphorylation in vivo, has identified the role of MeCP2 phosphorylation in mouse hippocampal neuronal synaptic scaling, and discovered a novel role of MeCP2 phosphorylation in neuroprogenitors. In addition, Dr. Chang has generated induced pluripotent stem cell (iPSC) lines from females with Rett syndrome as “humanized” models in which to study Rett syndrome. His current interests include phosphorylation of MeCP2 as a potential epigenetic regulatory switch and the role of astrocytes in Rett syndrome pathogenesis.
Dr. Zhaolan (Joe) Zhou, Ph.D. is a molecular geneticist and neuroscientist at the University of Pennsylvania and Director of the Preclinical Models Core at the Intellectual and Developmental Disabilities Research Center at Children’s Hospital of Philadelphia. Dr. Zhou has been studying Rett syndrome since his post-doc training at Harvard. Now at the University of Pennsylvania, one focus of his lab is to elucidate the molecular pathogenic basis of Rett syndrome. His lab has developed mouse models recapitulating Rett syndrome mutations and studied the cell and non-cell autonomous molecular and cellular changes in a neuronal cell-type specific manner. Dr. Zhou has an interest in epigenetics, studying the regulation and functional significance of DNA methylation in the context of gene-environment interactions. His lab also studies the Rett-related disorder, CDKL5 deficiency.
Dr. Joseph Ecker, Ph.D. is a plant and molecular biologist at the Salk Institute, where he is the Director of the Genomic Analysis Laboratory. His work focuses on epigenomics in plants, mice, and humans, with a focus on the brain for mice and humans. His lab studies DNA methylation through development, and as part of the BRAIN initiative, his lab has developed an epigenomic cell atlas of the mouse brain. Previously Dr. Ecker’s lab created the first detailed map of the mouse and the human epigenome across the lifetime and he developed Methyl-Seq.
Dr. Kyle Fink, Ph.D. is a neuroscientist at the Institute for Regenerative Cures at UCDavis. Dr. Fink’s research interest on the therapeutic development of gene modifying modalities such as Zinc Fingers, Transcription Activator-like Effectors, and CRISPR/Cas9 to treat genetically-linked neurological disorders. His key interest in this field involves understanding the therapeutic benefit of gene regulation using artificial transcription factors and epigenetic editing in human cellular models of disease, functional efficacy in transgenic rodent models, and optimization of delivery modalities such as AAV in clinically-relevant models.
Dr. Alysson Muotri, Ph.D. is a Professor at the Sanford Consortium for Regenerative Medicine at UC San Diego. His lab focuses on development of brain organoids from stem cells as a disease model as well as potentially a platform for preclinical testing of therapeutics. Dr. Muotri pioneer studies with Rett syndrome iPSCs derived from patients, creating neurons and showing reversibility of phenotypes. From this, his lab developed functional brain organoids (aka “mini-brains” ) on which research studies can be conducted and drugs can be tested. Dr. Muotri’s lab continues
Dr. Haiyan Fu, Ph.D. is a scientist at the Gene Therapy Center at the University of North Carolina. Her research focus is to develop effective gene delivery approaches to target the entire nervous system using adeno-associated virus vectors. Currently her lab is developing gene therapy approaches to treat neuropathic lysosomal storage diseases. Her efforts have led to three IND approvals of Phase ½ gene therapy clinical trials in patients with mucopolysaccharidosis (MPS) IIIA, MPS IIIB, and MPS II using trans-BBB-neurotropic AAV9 vectors via systemic delivery. Her goal is to translate effective gene therapy products to treating neurogenetic diseases in humans and improve the quality of life of patients and their families.
Dr. Sharad Verma, Ph.D. is currently a Program Director in the Preclinical Therapeutics Grants Branch (PTGB) at the National Cancer Institute (NCI) at the National Institutes of Health (NIH). The PTGB supports pre-clinical research that focuses on the discovery, development, and evaluation of anti-cancer agents (primarily small molecules) for the treatment of cancer. Prior to joining the NCI, Dr. Verma was at The Johns Hopkins University School of Medicine, where he held a joint appointment as an Assistant Professor of Neurology, and as Director of Research & Development for the Neurofibromatosis Therapy Acceleration Program (NTAP), a non-profit research focused organization dedicated to developing effective treatments for patients with neurofibromatosis 1 (a rare neurogenetic disorder affecting 1:2500 persons). Dr. Verma spent over 15 years in the private sector working for Bayer and GlaxoSmithKline, serving in various R&D leadership roles for the discovery and clinical development of oncology therapeutics. Dr. Verma’s outside experiences include having been a full time member of the NIH study section on Drug Discovery for the Nervous System, and as a reviewer for multiple scientific journals. Dr. Verma is trained as a synthetic organic and medicinal chemist, and was an NIH postdoctoral fellow at the University of California, Berkeley.
Dr. Marcie Glicksman, Ph.D. is a neuroscientist and Head of biology at EnClear Therapies. Dr. Glicksman has spent 30 years dedicated to developing better therapeutics for the nervous system and other therapeutic areas. Her efforts have resulted in numerous drugs entering the clinic and achieving regulatory approval for Cephalon (now Teva Pharmaceuticals) and Cubist (now Merck). Her work in drug discovery has led her to create multiple start-up companies. She has been a key advisor for numerous foundations including the Michael J. Fox Foundation, the Alzheimer’s Drug Discovery Foundation, and the National Multiple Sclerosis Society. Her background in neuroscience and drug discovery uniquely positions her to help advance therapeutics for Rett syndrome.
Dr. Tiina Urv, Ph.D. is a behavioral scientist in the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences (NCATS) at the NIH. Dr. Urv is the Program Director for the Rare Diseases Clinical Research Network, which funded the Rett syndrome Natural History study for the last 15 years. At NCATS, she also was a program director for the Division of Clinical Innovation and part of a team overseeing the Clinical and Translational Sciences Awards. Prior to joining NCATS, Dr. Urv was a Program Officer at the National Institute of Child Health and Human Development (NICHD). During her tenure at NCATS and NICHD Dr. Urv has worked with numerous rare diseases including Fragile X, Down syndrome, and spinal muscular atrophy. Her work has been in multiple rare diseases, in translational and clinical research, and in clinical trial readiness.
Dr. Liz Berry-Kravis, M.D., Ph.D. is child neurologist and the Co-Director of the Molecular Diagnostics Section of the Genetic Laboratory at Rush University. She established the Fragile X Clinic and Research Program at Rush University Medical Center in 1992, and provides care to over 700 patients with FXS and additional patients with other NDDs. She conducts clinical and basic research on FXS, other NDDs and neurodegenerative diseases, including outcome measure, biomarker and natural history studies, and clinical trials in FXS, PMS, NPC, Angelman syndrome, Rett syndrome, and Down syndrome, and is a leader in the translational effort to develop new models for targeted treatment for FXS.
So much has been learned over the last 20 years since it was discovered that the MEPC2 gene is responsible for Rett syndrome. While I’m excited about this progress, I can’t rest until we have a way to substantially improve our loved ones’ quality of life. I’m confident that with the SAB, we can focus the money raised by each one of you to have the most impact for our young and adult children living with Rett syndrome.
Dr. Dominique Pichard
Chief Science Officer