2021 marked the 30th anniversary of the discovery of the Fragile X gene. This 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. Drs Randi & Paul Hagerman with Prof Flora Tassone discuss the discovery of conditions associated with Fragile X (FXTAS and FXPOI). Prof Ted Brown provides a short overview of Australian developments in reproductive carrier testing.
The text was revised in November 2022 to include updated information on genetic carrier screening - Medicare funded for FX, Cystic Fibrosis & Spinal Muscular Atrophy) from Nov 2023, as announced in the Federal Budget March 2022, and update on Mackenzie's Mission.
