Panel Discussion – Fragile X – Associated Tremor Ataxia Syndrome (FXTAS) — Panel

Featuring Randi J. Hagerman, MD, Deborah A. Hall, MD, PhD, David Hessl, PhD, and Peter K. Todd, MD, PhD.

Question and Answer Session

Runtime: 1:03:53

About the Speaker

Peter K. Todd, MD, PhD.

Peter K. Todd, M.D., Ph.D., is the Bucky and Patti Harris Professor and Associate Chair of research in the Department of Neurology in the University of Michigan Medical School. Dr Todd’s research lab studies the mechanisms by which nucleotide repeat expansions cause neurological disorders with a long term goal of developing novel therapeutics for these currently untreatable conditions. His lab has published extensively on Fragile X-associated disorders, such as Fragile X Syndrome and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) as well as C9orf72 repeat expansions that cause ALS and frontotemporal dementia. As a clinician, Dr. Todd Directs the UM Ataxia clinic and the UM Fragile X Clinic where he sees adult patients with inherited neurological diseases. He also founded and directs the Clinical Neurogenetics Research Program, which aims to improve research and care for patients with inherited neurological disorders. He has received numerous awards, including the Hagerman Prize from the National Fragile X Foundation, the S. Weir Mitchell Alliance award from the American Academy of Neurology and the Derek Denny Brown Award from the American Neurological Association.

Randi J. Hagerman, MD

Medical Director Fragile X Research and Treatment Center

Dr Hagerman is a Developmental and Behavioral Pediatrician who has worked in the fragile X field for over 30 years on both FXS and premutation disorders. She is at the MIND Institute at UC Davis where she holds an Endowed Chair in Fragile X Research and she runs the Clinical Trials Program and is the Medical Director of the MIND Institute. She has published over 400 articles related to fragile X and related disorders. In the spirit of mentorship and collaboration, the NFXF Summer Scholar Program proudly bears Dr. Hagerman’s name and is now the Randi J. Hagerman Summer Scholars Research Award.

David Hessl, PhD

Professor at MIND Institute UC Davis

Dr. Hessl is Professor in the Department of Psychiatry and faculty member of the MIND Institute at the University of California, Davis since 2002. He is the head psychologist of the Fragile X Research and Treatment Center, and he directs the Translational Psychophysiology and Assessment Laboratory (T-PAL), which is primarily devoted to development of novel outcome measures (behavioral, cognitive, eye-tracking, ERP, peripheral nervous system) for use in clinical trials for individuals with neurodevelopmental disorders. Dr. Hessl’s research for the past two decades has focused on the neuropsychological and psychophysiological assessment and treatment of individuals with neurodevelopmental disorders, with a primary focus on fragile X-associated disorders, autism, and Down syndrome. He serves on the Scientific and Clinical Advisory Board and the Clinical Trials Committee of the National Fragile X Foundation (NFXF), has been instrumental in the selection and validation of key clinical outcome measures for fragile X targeted treatment studies, and has contributed to the delineation of NIH research priorities for fragile X-associated disorders. Currently he is the PI of a NICHD-funded project, “A Cognitive Test Battery for Intellectual Disabilities”, which aims to validate, and make adjustments where necessary, the NIH Toolbox Cognition Battery (NIHTB-CB) for people with intellectual disabilities. His lab has been instrumental in improving methods for sensitively measuring IQ in low functioning individuals, with methods applied to some of the most widely used IQ or developmental tests (Wechsler Scales, Stanford Binet, Mullen Scales). Dr. Hessl is PI (with Susan Rivera) of a program of research (NINDS R01 “Trajectories and Markers of Neurodegeneration in Fragile X Premutation Carriers”) focused on neuropsychological and neurological changes in adult carriers of the fragile X premutation who are at risk for neurodegeneration in the form of fragile X-associated tremor ataxia syndrome (FXTAS). One of Dr. Hessl’s newest efforts is his leadership of the International Fragile X Premutation Registry in collaboration with the NFXF.

Deborah A. Hall, MD, PhD

BLAAC PD Site PI at RUSH University