Read online – Margaret’s Story: The unfolding discovery of the Fragile X gene
Margaret’s Story: The unfolding discovery of the Fragile X gene by Prof Gillian Turner AO and contributors was published by Fragile X Association of Australia in August 2021.
The booklet includes a foreword and chapters by Prof Gillian Turner AO, a pioneering female clinician and researcher in the 1970s and onward, about the international race to discover the Fragile X gene.
The booklet begins with a brief chapter written by Margaret Cunningham, after whom the booklet is named, focussing on the struggle many families faced in the days before genetic testing in searching for answers to the cause of a child’s intellectual disability.
A chapter by Prof Grant Sutherland AC recounts the story of the cloning of the Fragile X gene and the discovery of the novel underlying triplet repeat mutation that leads to the Fragile X syndrome.
In the “Fragile X premutation carriers” chapter Profs Randi & Paul Hagerman from the UC Davis Mind Institute, with Prof Flora Tassone, discuss how Fragile X-associated conditions were discovered: Fragile X-associated Tremor Ataxia syndrome (FXTAS), an adult-onset neurological condition characterised by ataxia and tremor, Fragile X-associated Primary Ovarian Insufficiency which can lead to infertility and early menopause, and other Fragile X Premutation Associated Conditions.
The booklet concludes with a brief overview by Prof Ted Brown of the state of play with regard to reproductive genetic carrier screening in Australia.
A limited number of printed copies of the booklet are available from Fragile X Association of Australia: firstname.lastname@example.org