Elizabeth Berry-Kravis MD, PhD

Elizabeth Berry-Kravis MD, PhD is a Professor of Pediatrics and Neurological Sciences at Rush University Medical Center in Chicago.  She established the Fragile X Clinic and Research Program in 1991, through which she has provided care to over 800 patients with fragile X syndrome (FXS). She has studied medical issues, epilepsy and psychopharmacology in FXS, and has been a leader in translational research in FXS for 20 years, including development of clinical outcome measures and biomarkers, natural history studies, newborn screening, and particularly clinical trials of new targeted treatments in FXS, for which she has been PI or Co-PI of 27 trials, both industry and investigator sponsored. Her laboratory studies the cellular role of fragile X mental retardation protein (FMRP), relationship between FMRP and clinical function, and optimization of genetic testing methods. More recently she has expanded clinical and translational work to other neurodevelopmental disorders in addition to FXS, including autism spectrum disorders and single gene models of ASD, including Phelan McDermid syndrome, Rett syndrome, and Angelman syndrome. She also is working on translational research in rare neurogenetic disorders including Niemann-Pick type C, Battens disease, pantothenate kinase-associated neurodegeneration, and creatine transporter deficiency, as well as N-of-1 trials of ASOs and gene therapy for early onset epileptic encephalopathies and other neurogenetic conditions. She is on Advisory and/or Review Boards for the FRAXA Research Foundation, National Fragile X Foundation, Phelan McDermid Syndrome Foundation, International Rett Syndrome Foundation, Angelman Syndrome Foundation, Foundation for Angelman Syndrome Therapeutics, Combined Brain, N=1 Collaborative, n-Lorem Foundation and the GATHER Foundation. She has received the NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, NFXF William and Enid Rosen Research Award, March of Dimes Jonas Salk Research Award, American Academy of Neurology Sidney Carter Award in Child Neurology, John Merck Fund Sparkplug Award, the FRAXA Ingenuity Award, the FAST Innovation Award, and the inaugural Martha Bridge Denckla Award from the Child Neurology Society for work in cognitive disorders of children.