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Margaret's Story: The unfolding discovery of the Fragile X gene | Read online

Margaret's Story: The unfolding discovery of the Fragile X gene | Read online

By Prof Gillian Turner AO with contributions from other leaders in Fragile X discovery

2021 marks the 30th anniversary of the discovery of the Fragile X gene. This short booklet is a brief and very readable history of Australia's involvement in the discovery of the Fragile X gene, from the perspective of the Australian researchers involved in the international race to find the gene causing Fragile X syndrome, and the perspective of one of the families which had been searching for answers. Drs Gillian Turner and Grant Sutherland describe their initial discoveries of a test for the fragile site on the X chromosome, and in identifying the presentations of Fragile X syndrome. Drs Randi and Paul Hagerman with Prof Flora Tassone discuss their discovery of conditions associated with Fragile X - FXTAS and FX-related Primary Ovarian Insufficiency. Prof Ted Brown provides an overview of Australian developments in reproductive carrier screening for conditions including Fragile X syndrome.

Webinar: Fragile X syndrome: In pursuit of a cure

Webinar: Fragile X syndrome: In pursuit of a cure

Watch on replay

This free world-wide webinar on 22 July featured FX expert scientists and clinicians from around the world speaking about current and future treatments for Fragile X syndrome. The eminent speakers included experts such as Prof Randi Hagerman, from the UC Davis MIND Institute and many others who have been working in this field for many years, speaking about the current treatment landscape and the 10-year horizon. The webinar is now available to watch on-demand.

Webinar on Fragile X syndrome | Clinical trials in Australia

Webinar on Fragile X syndrome | Clinical trials in Australia

Watch on replay

Our live webinar on 29th July provided an overview of the clinical trials landscape in Australia, what's involved in participating in a clinical trial on treatments for Fragile X syndrome symptoms, and the regulatory processes in Australia for new medicines. Speakers included Australian health professionals who have years of experience in Fragile X syndrome treatments, both as clinicians and researchers. The recording is now available on our youtube channel.

Building knowledge

Building knowledge

Join the Registry: Enrol online

The online International Fragile X Premutation (IFXPM) Registry has been created to encourage research on the Fragile X premutation and ultimately lead to better care, and possible treatments, for females and males whose health is impacted by the premutation. The goal is to build knowledge about the Fragile X premutation. If you're a Fragile X premutation carrier, we invite you to join the IFXPM Registry. (A Registry is a contact list stored in a secure online database.) Once you have enrolled, you may be contacted by the Registry team about research studies you may be eligible to participate in. You'll also be provided with annual updates about research developments in this field. The Registry is led by the US National Fragile X Foundation, the UC Davis MIND Institute, and is supported by Fragile X Association of Australia.

Research study open

Research study open

Seeking parents' thoughts on new genetic tests in development

Dr Erin Turbitt is a social science researcher at the University of Technology Sydney. Erin is leading a new study to learn what parents think about new genetic tests in development. These are tests that may give families more detailed information child’s condition. These are tests that may give families more detailed information child’s condition. Erin is seeking parents to participate in an interview study about new genetic tests and she hopes that you are able to help. The 30-minute interview can be via phone, Zoom or email.

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Fragile X Association of Australia is a registered charity, funded by donations and fundraising. Donations of $2.00 and over are tax deductible. Your donation will help us support families affected by Fragile X, and to increase awareness of Fragile X associated conditions.

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