S2E33: Ep 33 Genetics Pathology | Fragile X: The Fra(X)-men

This Pathological Life Podcast

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Fragile X is the most common form of inherited intellectually disability.

It is a sex-linked chromosomal disorder that affects boys much more commonly than girls. However, it took some ingenious foresight combined with advancing genetic techniques in the 1970s and 1980s to isolate the exact cause of this condition.

This is a challenging diagnosis for General Practitioners, Specialists, Patients and their families.

A multi-disciplinary approach is essential and, as Professor Graeme Suthers always says ‘listen to your patients and don’t be afraid to seek advice’.

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GUEST HOST & INTERVIEW

Professor Graeme Suthers
BSc (Med), MBBS, PhD, FRACP, FRCPA, GAICD

Prof Suthers is Sonic Healthcare' Director of Genetics. He is one of Australia’s most respected experts in the field of genetics, and is nationally and internationally recognised for his expertise in genetic disorders, testing and clinical service provision.
clinpath.com.au/about-us/clinpath-leadership/our-pathologists/professor-graeme-suthers/

This Pathological Life is produced by Clinpath Pathology in South Australia.

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Hoofdstukken

1. Ep 33 Genetics Pathology | Fragile X: The Fra(X)-men (00:00:00)

2. Professor Graeme Suthers - Fragile X Syndrome History (00:01:18)

3. Part Two - Discovery and identification of the gene (00:11:53)

4. Part Three - GP awareness and application (00:22:46)