Setting the Standard in Best-in-Class Care and Rett Syndrome Centers of Excellence

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RSO Establishes Medical Advisory Board to Enhance Clinical Care and Research Availability

Creating a world without Rett syndrome requires a national network of clinics that are working closely together, sharing best practices, ensuring excellent care, and standing ready to participate in clinical trials. To make this network a reality, International Rett Syndrome Foundation has partnered with 11 esteemed clinical researchers to establish the International Rett Syndrome Foundation Medical Advisory Board. This Medical Advisory Board is already at work, defining criteria for Rett Syndrome Centers of Excellence. Our goal is that this national network of clinics will become the “go-to” resource for families, researchers, clinicians, and pharmaceutical companies throughout the world. We are honored and thrilled to have this group of Rett syndrome experts partner with us as we continue to advance our aggressive research agenda to get treatments and, ultimately, a cure for our loved ones living with Rett syndrome.

Redefining criteria for the Rett Syndrome Centers of Excellence is essential to helping clinics continue to provide “best-in-class” care and collect data so we can continue to improve the care of those with Rett syndrome. We also need Rett clinics to maintain readiness as clinical trial sites. Without clinics ready to carry out clinical trials, amazing scientific breakthroughs for Rett syndrome will never have the opportunity to become an available FDA-approved therapeutic. In addition to supporting families, Rett Syndrome Centers of Excellence will also act as a network of national consultants for clinicians in areas where there are no clinics. Our Foundation will reinforce the clinical network by supporting the new Centers of Excellence to achieve these goals.

The members of our Medical Advisory Board, along with our Scientific Advisory Board, will guide us so that our investments can make the most impact on the future of our loved ones with Rett syndrome.

Our Medical Advisory Board consists of a dynamic and exceptional group of individuals working in Rett syndrome medicine and research. They bring their patient and clinical expertise to IRSF to guide our efforts to enhance our current Rett syndrome clinical network and expand best-in-class care and expert consultation across the U.S. and around the world. The Medical Advisory Board is chaired by Dr. Liz Berry-Kravis, a world-renowned expert in Fragile X Syndrome who also treats those with Rett syndrome. Her leadership, infused with her experience with Fragile X, will continue to improve our clinical infrastructure in Rett syndrome.

“In order for a community of patients and families to have access to best-in-class care and clinical trials,  an active and engaged clinical network is critically essential.  I want to commend International Rett Syndrome Foundation on their decision to create and support this network. I am honored to chair this activity on behalf of my clinical colleagues and the Rett syndrome patients we serve.” Dr. Elizabeth Berry-Kravis

Please help us welcome the members of our Medical Advisory Board.

Chair: Elizabeth Berry-Kravis, MD, PhD, is a 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. She 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.

Tim Benke, MD, PhD, Professor of Pediatrics, Neurology, Pharmacology and Otolaryngology at the University of Colorado School of Medicine, is a child neurologist and the Ponzio Family Chair in Pediatric Neurology Research and Director of Research at the Neuroscience Institute at Children’s Hospital Colorado. Dr. Benke is also the Medical Director of the Rett Clinic at Children’s Hospital Colorado. Dr. Benke has served as the Medical Advisor for IRSF since 2018 and, through this role, has led the organization in important efforts, such as the Rett Syndrome Learning Collaborative, which is developing standards for Rett syndrome clinics. He completed his medical and doctoral degrees at Baylor College of Medicine, where he focused his research on synaptic transmission in the central nervous system. Dr. Benke continued his training at Baylor College of Medicine, where he completed residencies in pediatrics and pediatric neurology.

Sasha Djukic, MD, PhD, is Professor of Neurology at Albert Einstein College of Medicine and the Director of the Center for Rett Syndrome in the Children’s Hospital at Montefiore in Bronx, New York. Dr. Djukic began her training at the University of Belgrade in Yugoslavia, obtaining both her medical and doctorate degrees there. She then moved to Albert Einstein College of Medicine, where she completed her pediatric residency and neurology fellowship. She founded the Rett Center at Montefiore in 2008, which provides comprehensive multidisciplinary care to 380 patients with Rett syndrome. It is the only Rett clinic in the Tri-State area. Dr. Djukic has a special interest in neuropsychology and how those with Rett syndrome communicate and excel in their education. She was the first to effectively implement eye-tracking technology as a method of cognitive assessment in patients with Rett syndrome and objective neurophysiological techniques to assess their language processing. She has also published about clinical care and worked with other scientists to develop biomarkers in Rett syndrome. Dr. Djukic was a founder of an international Blue Sky Girls event that raised awareness about Rett syndrome.

Tim Feyma, MD, is a child neurologist and the Associate Medical Director of the Rett Syndrome and Movement Disorder Clinic at Gillette Children’s Specialty Healthcare in St. Paul, MN. Dr. Feyma received his medical degree from the University of Wisconsin. He then completed his pediatric residency training at Penn State Hershey Medical Center, followed by a pediatric neurology fellowship at the University of Washington in Seattle. Dr. Feyma conducts research in non-invasive brain stimulation, Rett syndrome, and movement disorders. He specializes in care for neurologically complex patients with epilepsy, movement disorders, and autonomic dysfunction.

Daniel Glaze, MD, is a Pediatric Neurology Specialist in Houston, TX, and has over 46 years of experience in the medical field. He graduated from Baylor College of Medicine medical school in 1974. He is a Professor of Pediatrics and Neurology at Baylor College of Medicine and is affiliated with Texas Children’s Hospital. Dr. Glaze established the Blue Bird Circle Rett Center and serves as the Medical Director for the Rett Center. He is a pediatric neurologist specializing in seizures and sleep problems. He is involved in the clinical care of individuals with Rett syndrome and MECP2 related disorders and clinical research and education. Dr. Glaze leads the Rett Center’s clinical research team.

Mary Jones, MD, MPH, is a pediatrician and the Medical Director of Katie’s Clinic for Rett syndrome and related disorders founded in 2004 at UCSF Benioff Children’s Hospital in Oakland, CA. Dr. Jones completed her medical degree at LSU School of Medicine in New Orleans and received a Master of Public Health at Tulane. She pursued residency training in pediatrics at UTMB in Galveston, Texas, and was in private practice for 31 years. In 2002, Dr. Jones met a young girl, Katie, with Rett syndrome. She saw the need for a specialty center dedicated to Rett syndrome to provide coordinated multidisciplinary care for children like Katie, and Dr. Jones helped form Katie’s Clinic. Dr. Jones has seen over 250 patients with disorders of MECP2 who travel from states in the western region of the U.S. and Canada. Her interests include providing the best therapies that contribute to an enriched environment for those living with Rett and related disorders. She is strongly supportive of Augmentative and Alternative communication for her patients. She has contributed to the guidelines for communication, nutrition, and primary care as well as several other publications from the Natural History Study.

David Lieberman, MD, PhD, is a child neurologist at Boston Children’s Hospital. Dr. Lieberman completed his medical and doctorate degrees in Neuroscience at Stanford University School of Medicine. He continued his training at Johns Hopkins University School of Medicine, completing an internship in Pediatrics and a Residency in Pediatric Neurology. Dr. Lieberman remained at Johns Hopkins as faculty until 2007, when he took a faculty position in the Neurosciences Department at UC San Diego. While there, he participated in basic science research in Rett syndrome using the Mecp2 knockout mouse. Since 2016, Dr. Lieberman has been the Clinical Director of the Comprehensive Rett Syndrome Program at Boston Children’s Hospital. He follows more than 200 patients with Rett syndrome and Rett-related disorders. He has co-authored several papers on Rett syndrome.

Eric Marsh, MD, PhD, is a child neurologist at the Children’s Hospital of Philadelphia (CHOP) and the Clinical Director of the Orphan Disease Center at the University of Pennsylvania. Dr. Marsh completed his medical and doctoral degree in neuroscience at New York University (NYU). He then pursued residency training in Pediatrics at NYU followed by a Pediatric Neurology residency and fellowship in clinical neurophysiology at CHOP. Dr. Marsh specializes in epilepsy and neurogenetic conditions. He leads the Rett program at CHOP. Dr. Marsh has seen more than 150 patients with Rett and Rett-related disorders and has co-authored more than 70 publications with six on MECP2 disorders. Dr. Marsh is interested in understanding the clinical features of epilepsy and other events in Rett syndrome, as well as developing biomarkers and outcome measures to aid in the progression of clinical trials. He also performs basic science work that aims to understand how developing brain networks are altered by genetic changes and how this leads to epilepsy and cognitive changes.

Jeffrey Neul, MD, PhD, is a child neurologist and the Annette Schaffer Eskind Chair and Director of the Vanderbilt Kennedy Center for Research on Human Development at Vanderbilt University Medical Center. Dr. Neul began his career at the University of Chicago, where he completed his medical and doctorate degrees. He completed his pediatric neurology residency at Baylor College of Medicine. Dr. Neul is the Program Director of the Rett Syndrome Program at the Vanderbilt Kennedy Center. He has seen more than 500 patients with Rett and Rett-related disorders. His research interest is on developing new therapies, outcome measures, and translatable biomarkers in Rett syndrome and related neurodevelopmental disorders. Dr. Neul has co-authored more than 65 publications on Rett syndrome and related disorders.

Alan Percy, MD, is a child neurologist at the University of Alabama and the Director of the Rett Syndrome Clinic. Dr. Percy attended Stanford University School of Medicine where he stayed for his pediatrics residency. He then moved east for a fellowship in Neurology and Child Neurology at Johns Hopkins University. Dr. Percy spent almost 15 years at Baylor College of Medicine, where he first encountered a patient with Rett syndrome. He now has almost 40 years of caring for patients with Rett syndrome. He has been the Primary Investigator for the Rett and Rett-related disorder Natural History Study, which has been the largest study of its kind, resulting in advances in our understanding and knowledge of Rett syndrome.

Robin Ryther, MD, PhD, is a child neurologist and pediatric epileptologist at Washington University in St. Louis, MO. Dr. Ryther completed her medical and doctoral degrees at Vanderbilt University and moved to Boston for a pediatric residency at Massachusetts General Hospital and a child neurology residency at the Partner’s Neurology Program at Massachusetts General Hospital and Brigham and Women’s Hospital. She then returned to Washington University School of Medicine for a fellowship in neurophysiology and epilepsy. Dr. Ryther sees patients with Rett syndrome at the Rett Spectrum Clinic at St. Louis Children’s Hospital. She has a special interest in managing complex epilepsy.