Northwestern University

May
16
Wed 4:00 PM

Targeted Treatment of Fragile X Syndrome: Modifying the Translational Pathway - Elizabeth Berry-Kravis, MD, PhD

When: Wednesday, May 16, 2018
4:00 PM - 5:00 PM  

Where: Robert H Lurie Medical Research Center, Baldwin Auditorium, 303 E. Superior, Chicago, IL 60611 map it

Audience: Faculty/Staff - Student - Public - Post Docs/Docs - Graduate Students

Contact: Michelle Mohney   312.503.5602

Group: Center for Autism and Neurodevelopment

Category: Lectures & Meetings

Description:

The Center for Autism and Neurodevelopment of Northwestern University Feinberg School of Medicine welcomes you to attend a lecture featuring:

Elizabeth Berry-Kravis, MD, PhD
Professor of Pediatrics, Neurological Sciences, and Biochemistry
Rush University Medical Center

The talk will describe basic research and animal model work leading to understanding of the roles of FMRP in regulation of dendritic translation and synaptic morphology and plasticity, and aberrant regulation ensuing from absence of FMRP in FXS and FXS models. The development of treatments correcting the cellular translational pathway, synaptic functioning and numerous phenotypes in the animal models will be presented, followed by a discussion of the effort to bring these findings to humans with FXS, including hurdles, lessons learned, and resultant need to develop new paradigms for translation of treatments targeted to mechanisms of neural plasticity in neurodevelopmental disorders.

Join us remotely via Blue Jeans, courtesy a partnership with the Institute for Innovations in Developmental Sciences.

Elizabeth Berry-Kravis MD, PhD is a Pediatric Neurologist and Professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago. She established the comprehensive Fragile X Clinic and Research Program in 1991, through which she provides care to over 600 patients with fragile X syndrome (FXS). Her research has included studies of medical issues, epilepsy and psychopharmacology in FXS, characterization of neurological problems in FXTAS, and in particular translational work in FXS including outcome measures and biomarkers, natural history, newborn screening, and design and implementation of clinical trials of new targeted treatments in FXS. Her laboratory studies the cellular role of fragile X mental retardation protein (FMRP), relationship between FMRP and clinical function, and methods for optimizing genetic testing in fragile X-associated disorders. More recently she has expanded clinical management and translational work to other developmental and degenerative disorders including Niemann-Pick type C, Down syndrome, Rett syndrome, autism spectrum disorders, Phelan McDermid syndrome, sex chromosome aneuploidies and Angelman syndrome. She is on Advisory Boards for the FRAXA Research Foundation, National Fragile X Foundation numerous pharmaceutical companies working in the neurodevelopmental and neurodegenerative disorders space. She is Chair of the Clinical Committee of the Fragile X Clinical and Research Consortium. She has received numerous awards and honors including the Jarrett Cole Award for clinical work in FXS in 2002, the Hagerman Award for excellence in FXTAS research in 2004, the FRAXA Champion Award in 2011, an Autism Speaks Top Ten Research Accomplishment for 2012, the Ups for Downs Commitment to Excellence Award in 2012, the NFXF William and Enid Rosen Research Award in 2014, the March of Dimes Jonas Salk Research Award in 2015, the American Academy of Neurology Sidney Carter Award in Child Neurology in 2016 and the John Merck Fund Sparkplug Award in 2016.

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