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pdf File Dr. Elizabeth Berry-Kravis' presentation (3,258KB) [download]

The Rapidly Changing Landscape of Fragile X

Monday, November 7, 2011 09:45AM - 12:45PM

Location: Potomac Room V/VI

Session Description


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Fragile X syndrome is the leading inherited cause of intellectual disability. Originally considered to be a simple single-gene disorder inherited from unaffected carrier mothers, it is now recognized that "fragile X" represents a complex spectrum of associated conditions with widely varying expression. This symposium begins with a summary of what is now known about this spectrum of associated conditions, including information about how FX affects individuals as well as families, suggesting needs for both individual services and family support. Building on this introduction, we then address two topics in detail: (1) promoting early identification; and (2) testing the efficacy of medications designed to address the "core" neurobiological mechanisms of disease in fragile X. Both topics are currently the focus of considerable research and discussion, and both serve as prototypes for issues and opportunities that almost certainly will have implications for identifying, understanding, and treating other forms of intellectual disability in the coming years.



Don Bailey, PhD is a Distinguished Fellow at RTI International. For 27 years, he was on the faculty of the University of North Carolina at Chapel Hill, where he was a W.R. Kenan, Jr. Distinguished Professor and for 14 years Director of the Frank Porter Graham Child Development Institute. Dr. Bailey's research addresses early identification and early intervention for children with disabilities, as well as family adaptation to disability. For the past 20 years, much of his work has focused on children with fragile X syndrome (FXS), the leading inherited cause of intellectual impairment, and their families. He directs several projects funded by the National Institutes of Health and the Centers for Disease Control and Prevention on various aspects of fragile X and broader issues surrounding the ethical, legal, and social consequences of genetic discoveries and the disclosure of genetic information to families, including newborn screening. In 2006, he received the Career Research Scientist Award from the Academy on Mental Retardation. From 2006 to 2009 he served as President of the Board of Directors of the National Fragile X Foundation (  Recently he was appointed to serve a 4-year term on the DHHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. 

Dr. Don Bailey

Don Bailey, PhD. Distinguished Fellow, RTI International. Research Triangle Park, NC


Elizabeth Berry-Kravis MD, PhD is a Professor of Pediatrics, Neurology, and Biochemistry at Rush University Medical Center in Chicago and has worked in the fragile X field for the past 20 years. She received a BS (Chemistry) from the University of Notre Dame in 1979, PhD (Biochemistry) in 1983 and MD in 1985 from the University of Chicago, completed Pediatrics Residency in 1987 and Pediatric Neurology fellowship in 1990, also at the University of Chicago, and moved to Rush University Medical Center in 1992. She is Board Certified in Neurology with Special Qualifications in Child Neurology and in Pediatrics. She established the comprehensive Fragile X Clinic and Research Program in 1991, through which she now provides care and support to over 450 patients with fragile X syndrome (FXS) for management of neurological, medical, and behavioral and genetic issues. She established the Fragile X Associated Disorders Program at Rush in 2010, adding clinics for the care of patients with fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). She is internationally recognized for both research and clinical work on FXS and FXTAS and her clinical research projects have included studies of medical issues, epilepsy and psychopharmacology in FXS, clinical trials of new promising medications in FXS, development of outcome measures and biomarkers for such trials in the FXS population, and characterization of neurological problems in FXTAS and clinico-molecular correlations and markers of disease in fragile X carriers. Her laboratory research involves studies of effects of fragile X mental retardation protein (FMRP) on signal transduction mechanisms in peripheral and neural cells, as well as methods for optimizing genetic testing in fragile X-associated disorders. She has had NIH funding nearly continuously since 1994, including a current NIH-funded grant for newborn screening with UC Davis, and has over 100 peer-reviewed publications. She co-directs the Molecular Diagnostics Laboratory at Rush, which is a CAP and CLIA-certified DNA diagnostic laboratory that runs molecular tests for diagnosis of numerous genetic conditions and has run the FMR1 gene test for diagnosis of FXS for the past 17 years. She is on the Advisory Board for both the FRAXA Research Foundation and the National Fragile X Foundation, is the Chair of the Clinical Committee of the Fragile X Clinical and Research Consortium (FXCRC), and is on the Board of Directors for the National Fragile X Foundation. She received the Jarrett Cole Award for clinical work in fragile X in 2002, the Hagerman Award for FXTAS research in 2004, and the FRAXA Champion Award in 2011 for translational work in targeted treatment of FXS.  Dr. Elizabeth Berry-Kravis
 Elizabeth Berry-Kravis, MD. Professor of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center. Chicago, IL