Elizabeth Berry-Kravis, M.D., Ph.D., Co-Director, Molecular Diagnostics Section of the Genetic Laboratory; Professor, Department of Pediatrics, Rush Medical College
Dr. Berry-Kravis is a Professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago. She established the Fragile X Clinic and Research Program in 1991, through which she provides care to over 700 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 including the development of outcome measures and biomarkers, natural history studies, newborn screening, and particularly clinical trials of new targeted treatments in FXS, and her laboratory studies the cellular role of Fragile X Mental Retardation Protein (FMRP), the relationship between FMRP and clinical function, and optimization of genetic testing methods. More recently she has expanded her clinical and translational work to other neurodevelopmental disorders and genetic neurodegenerative diseases including autism spectrum disorders, Phelan McDermid Syndrome, Rett Syndrome, Angelman syndrome, Niemann-Pick type C, Battens disease, pantothenate kinase-associated neurodegeneration, DDX3X Syndrome, and creatine transporter deficiency. 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, the John Merck Fund Sparkplug Award, and the FRAXA Ingenuity Award.