Presented by Dr Jonathan Cohen MD and introduced by Andrea Lee (Executive Director of Fragile X Society of New Zealand) this webinar is an update and overview of the current knowledge on the Fragile X (FMR1) premutation. It addressed Fragile X Premutation Associated Conditions (FXPAC) with a focus on FX Associated Neuropsychiatric Disorders (FXAND), together with a brief overview of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-Associated Tremor Ataxia Syndrome (FXTAS). The webinar presents a good overview of the health impacts which some carriers of the FMR1 premutation may experience, and current approaches to management of symptoms.
A key source of much of the content is a paper published in the medical journal Cell, following the 5th International Conference FMR1 Premutation, New Zealand 2023. doi.org/10.3390/cells12182330
Dr Cohen is Medical Director of Fragile X Alliance Clinic and Genetic Clinics Australia.
This production of the webinar was supported by a grant from the Qantas Foundation's Side by Side grant program.
The technical hosting of the webinar was managed by @albaprime