Experts Discuss 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

Dr. Peter Todd is the Bucky and Patti Harris Professor and associate chair of research in the Department of Neurology at the University of Michigan Medical School. Dr. Todd’s research lab studies the mechanisms by which nucleotide repeat expansions cause neurological disorders with the 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

Dr. Randi 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

Dr. Hessl is a professor in the Department of Psychiatry and a 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 the 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 primary investigator 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 the primary investigator (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. 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

Dr. Deborah Hall is an adult neurologist and movement disorder specialist at Rush University Medical Center in Chicago. She has training in genetics, epidemiology, and human subjects research. She conducts research primarily in two areas: Her work in Parkinson’s disease focuses on early interventions, such as neurotrophic factors and exercise, genetics and genomic causes of disease, and treatment for complications including falls. She also researches ataxia, specifically Fragile X-associated disorders, by investigating epidemiology, clinical features of movement and balance, and interventions.

She has been funded by the National Institutes of Health for the last 10 years as a primary investigator. She has a busy clinical practice focused on movement disorders within the Department of Neurological Sciences at Rush. She is the director of the FXTAS Clinic and the Movement Disorder DNA Repository within the Section of Movement Disorders at Rush. Dr. Hall received her doctorate from Indiana University and her master’s from the University of Colorado, where she completed her residency and fellowship.