Webinar 

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

Premutation Carriers, National Fragile X Foundation (US) website

Fragile X Association of Australia YouTube channel