Understanding the Fragile X Premutation (Dr. Jonathan Cohen)

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Fragile X Australia Podcast

Alba Prime

43 episodes

1 month ago

Fragile X Association of Australia is a member-based organisation which serves as the peak body for the Fragile X community across Australia.

We offer information, support, education, advocacy and referrals to individuals who are impacted by Fragile X-associated disorders and to their families, carers and health and disability service providers.

Visit http://fragilex.org.au

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Understanding the Fragile X Premutation (Dr. Jonathan Cohen)

Fragile X Australia Podcast

49 minutes

11 months ago

Understanding the Fragile X Premutation (Dr. Jonathan Cohen)

Presented by Dr. Jonathan Cohen, MD, Medical Director of Fragile X Alliance Clinic and Genetic Clinics Australia, and introduced by Andrea Lee, Executive Director of the Fragile X Society of New Zealand, this episode provides a comprehensive update on the current understanding of the Fragile X (FMR1) premutation.

Dr. Cohen delves into Fragile X Premutation Associated Conditions (FXPAC), with a particular focus on FX-Associated Neuropsychiatric Disorders (FXAND). The discussion also includes a brief overview of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

We extend our gratitude to the Qantas Foundation Side by Side grant program for supporting the production of this valuable webinar.