Fragile X Premutation Webinar Dr Randi Hagerman – Recording, Slides and other resources
On 11 December 2021, internationally renowned Fragile X expert Prof Randi Hagerman MD PhD joined us live via Zoom to give a roundup of what we know about the Fragile X premutation – the latest information and research. In the webinar Dr Hagerman discussed the Fragile X premutation across the lifespan and the spectrum of premutation involvement, including FXPOI, FXTAS and other FX premutation-associated conditions. Dr Hagerman also spoke about health and wellness considerations for FX premutation carriers.
RECORDING: Watch the video of the webinar presentation from the link at the bottom of this page.
SLIDES: Dr Hagerman’s slides from this webinar are available here as a downloadable pdf:
FX Premutation Talk Australia_Randi Hagerman_11 Dec 2021
International Fragile X Premutation Registry
At the end of her presentation Dr Hagerman spoke about the role of the International Fragile X Premutation Registry in encouraging future research, and invited the audience to consider joining the Registry by enrolling online. Enrolment involves answering a series of survey questions with your contact, demographics and basic medical details related to the Fragile premutation. The data is stored in a secure online database.
JOIN THE REGISTRY THROUGH THIS LINK HERE
There are a number of other information sources online which will be helpful in understanding the Fragile X premutation. (This list is not exhaustive.)
Health Issues Fragile X Premutation Carriers can Experience. Q&A with Dr Randi Hagerman
Video filmed for Fragile X Association of Australia, September 2018. (viewing time 5 minutes)
Health and Wellness for Carriers of the Fragile X Premutation, Q&A with Prof Randi Hagerman
Video filmed for Fragile X Association of Australia, September 2018 (viewing time 6 minutes)
Women’s Health and the Fragile X Premutation booklet Espinel and Sherman, Emory University, Georgia, USA, 2015.
Women’s Issues in Fragile X Spectrum Disorders – This is an online chapter from the book published in 2020: “Fragile X syndrome and Premutation Disorders: New Developments and Treatments”, edited by Randi J Hagerman and Paul J Hagerman. London, MacKeith Press, 2020 ISBN: 9781911612377
AGG Interruptions: brief article on the National Fragile X Foundation US website on a DNA pattern called AGG interruptions and its impact on the stability of the Fragile X gene.
Fragile X-Associated Primary Ovarian Insufficiency (FXPO): Consensus of the Fragile X Clinical and Research Consortium [updated 2018] On the National Fragile X Foundation website.
Men’s Health and the Fragile X Premutation booklet: A Guide for carriers, caregivers and health professionals. Walsh and Sherman, Emory University, Georgia, USA, 2019.
FXTAS: New Advances and Treatments – This is an online chapter from the book published in 2020: “Fragile X syndrome and Premutation Disorders: New Developments and Treatments”, edited by Randi J Hagerman and Paul J Hagerman. London, MacKeith Press, 2020 ISBN: 9781911612377
General Anesthetic Use in Fragile X Spectrum Disorders – Public access author manuscript. J Neurosurg Anesthesiol. 2019 Jul: 31 (3):285-290 Ligsay, Hagerman et al