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Conference at KU to focus on genetic disorders

Friday, October 18, 2019

LAWRENCE – The Kansas Center for Autism Research and Training at the University of Kansas Life Span Institute and the Kansas Chapter of the National Fragile X Foundation will co-host a conference on FMR1 gene disorders that will bring together family members, caregivers, researchers, educators, therapists and individuals who want to learn more about this genetic disorder.

The one-day event, “Premutation Carriers: FXAND, FXPOI, FXTAS and Everything in Between,” will be held 8:30 a.m. to 3 p.m. Nov. 2 at the KU Edwards Campus in Overland Park. Registration for the event is $40, and child care is provided. The conference will focus on  Fragile X (FX) Syndrome, FX neuropsychiatric disorders (FXAND), FX premature ovarian insufficiency (FXPOI) and FX tremor/ataxia syndrome (FXTAS).

FX Syndrome is a genetic disorder resulting from mutations of the FRM1 gene. It is the most common heritable cause of intellectual/developmental disability. Individuals with “premutations,” or smaller variants of the FMR1 gene, also are at risk of developing multiple conditions including FXAND, FXPOI and FXTAS. While these conditions associated with FMR1 premutations have only been recently identified, there has been considerable progress in understanding underlying causes and presentation. Recent research into underlying causes and how these diseases may develop will be presented.

The event will feature Dr. Randi Hagerman, medical director of the University of California-Davis MIND Institute and director of the Fragile X Research and Treatment Center. She has more than 20 years of experience in the field of neurodevelopmental disorders and has been a leader in both FX research and in the discovery of conditions associated with FMR1 gene premutations.

Other speakers include Matthew Mosconi, director of the Kansas Center for Autism Research and Training, KU associate professor of psychology and applied behavioral science, and interim associate director of the Life Span Institute. He will discuss his research on functional brain changes in aging FMR1 gene premutation carriers.

“We are thrilled to welcome Dr. Randi Hagerman for this event,” he said. “We also are excited to bring together providers, family members and experts from across the country to collaborate on new pathways for understanding FMR1 conditions and how best to support individuals affected by them.”

The full agenda and registration information is available on the Life Span Institute website