Professor Graeme Suthers - Fragile X Syndrome History

Part Two - Discovery and identification of the gene

Part Three - GP awareness and application

** Thanks for downloading this episode. If you'd like to stay in touch with our continuing story, Season 2 continues at This Medical Life, in which Dr Travis Brown continues his exploration of diseases and our approaches to treatment from history to the modern day. Have a look in your podcast app now for This Medical Life, and hit subscribe so you never miss an episode **

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’.

This podcast is eligible for 1 RACGP CPD point – self reporting.

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.

** Thanks for downloading this episode. If you'd like to stay in touch with our continuing story, Season 2 continues at <a href="https://thismedicallife.com.au/">This Medical Life</a>, in which Dr Travis Brown continues his exploration of diseases and our approaches to treatment from history to the modern day. Have a look in your podcast app now for This Medical Life, and hit subscribe so you never miss an episode **
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.
<blockquote>
This is a challenging diagnosis for General Practitioners, Specialists, Patients and their families.
</blockquote>
A multi-disciplinary approach is essential and, as Professor Graeme Suthers always says &lsquo;listen to your patients and don&rsquo;t be afraid to seek advice&rsquo;.
<blockquote>
This podcast is eligible for 1 RACGP CPD point &ndash; self reporting.
</blockquote>
<hr>
GUEST HOST &amp; INTERVIEW
Professor Graeme Suthers BSc (Med), MBBS, PhD, FRACP, FRCPA, GAICD
Prof Suthers is Sonic Healthcare' Director of Genetics. He is one of Australia&rsquo;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. <a href="https://www.clinpath.com.au/about-us/clinpath-leadership/our-pathologists/professor-graeme-suthers/">clinpath.com.au/about-us/clinpath-leadership/our-pathologists/professor-graeme-suthers/</a>
This Pathological Life is produced by Clinpath Pathology in South Australia.

This Pathological Life Podcast

Every disease has its own story to tell - Dr Travis Brown

The podcast series “This Pathological Life” brings to life the spectrum of general pathology topics by delving into each through the lens of historical aspects of disease, community impact of chronic illness, study or research threads, and topical areas of interest. 

Podcast host Steve Davis is joined by our resident Pathologist Dr Travis Brown. Dr Travis Brown is a General Pathologist who enjoys working in the fields of Biochemistry, Microbiology, Anatomical Pathology, and Haematology.

Our podcast host Steve Davis, is a seasoned radio interviewer and podcaster. Aside from running his own marketing company, he is a public speaker, stand-up comedian and journalist.

We share episodes such as ‘A pox on both your houses.’, ‘A pathological addiction’, 'De Slag om Gluten (Dutch)', 'A smear in time (saves lives)' and quite simply, 'What is pathology anyway?'

This Pathological Life Podcast
<blockquote>
Every disease has its own story to tell - Dr Travis Brown
</blockquote>
The podcast series &ldquo;This Pathological Life&rdquo; brings to life the spectrum of general pathology topics by delving into each through the lens of historical aspects of disease, community impact of chronic illness, study or research threads, and topical areas of interest.&nbsp;
Podcast host Steve Davis is joined by our resident Pathologist Dr Travis Brown. Dr Travis Brown is a General Pathologist who enjoys working in the fields of Biochemistry, Microbiology, Anatomical Pathology, and Haematology.
Our podcast host Steve Davis, is a seasoned radio interviewer and podcaster. Aside from running his own marketing company, he is a public speaker, stand-up comedian and journalist.
We share episodes such as &lsquo;A pox on both your houses.&rsquo;, &lsquo;A pathological addiction&rsquo;, 'De Slag om Gluten (Dutch)', 'A smear in time (saves lives)' and quite simply, 'What is pathology anyway?'

Every disease has its own story to tell - Dr Travis Brown

This Pathological Life Podcast

Every disease has a story to tell - Dr Travis Brown

This Pathological Life podcast is an inspired collaboration between General Pathologist Dr Travis Brown and seasoned radio interviewer and podcaster, Steve Davis. 

By using a storytelling format, they share the history behind diseases and put health challenges into context to deepen your library of anecdotes and explanations. 

In Season One, the podcast brought to life a spectrum of general pathology topics by delving into each through the lens of historical aspects of disease, community impact of chronic illness, study or research threads, and topical areas of interest. We shared episodes such as ‘A pox on both your houses.’ – about small pox; ‘A pathological addiction to making sandwiches’ – Typhoid Mary and quite simply, "What is Pathology?".

In Season Two, we kick off with indigenous health chats with Dan Tyson Chief Executive Officer at Desert Knowledge Australia. We have lined up discussions about medical ethics with President AMASA Dr Chris Moy and social media health data with Mayo Clinic's Lee Aase Communications Director, Social and Digital Innovation, as well as immunology and allergy testing with Dr Daman Langguth Head of Immunology Department, Chair of SNP Partners, Member of Executive Advisory Committee, Chair of the Data Request Committee.

We consider "What is genius?" with Sonic Genetics Professor Graeme Suthers

We encourage you to request topics, stories and tales that would be of interest.

Enjoy the listen.

PS Dr Travis Brown is a General Pathologist who enjoys working in the fields of Biochemistry, Microbiology, Anatomical Pathology, and Haematology.

<blockquote>
Every disease has a story to tell - Dr Travis Brown
</blockquote>
This Pathological Life podcast is an inspired collaboration between General Pathologist Dr Travis Brown and seasoned radio interviewer and podcaster, Steve Davis.&nbsp;
By using a storytelling format, they share the history behind diseases and put health challenges into context to deepen your library of anecdotes and explanations.&nbsp;
In Season One, the podcast brought to life a spectrum of general pathology topics by delving into each through the lens of historical aspects of disease, community impact of chronic illness, study or research threads, and topical areas of interest. We shared episodes such as &lsquo;A pox on both your houses.&rsquo; &ndash; about small pox; &lsquo;A pathological addiction to making sandwiches&rsquo; &ndash; Typhoid Mary and quite simply, "What is Pathology?".
In Season Two, we kick off with indigenous health chats with <a href="https://www.dka.com.au/">Dan Tyson</a> Chief Executive Officer at Desert Knowledge Australia. We have lined up discussions about medical ethics with President AMASA <a href="https://www.ausdoc.com.au/author/dr-chris-moy">Dr Chris Moy</a> and social media health data with Mayo Clinic's Lee Aase Communications Director, Social and Digital Innovation, as well as immunology and allergy testing with <a href="https://www.snp.com.au/about-us/our-pathologists/a-z/dr-daman-langguth">Dr Daman Langguth</a> Head of Immunology Department, Chair of SNP Partners, Member of Executive Advisory Committee, Chair of the Data Request Committee.
We consider "What is genius?" with Sonic Genetics <a href="https://www.clinpath.com.au/about-us/clinpath-leadership/our-pathologists/professor-graeme-suthers">Professor Graeme Suthers</a>
We encourage you to request topics, stories and tales that would be of interest.
Enjoy the listen.
PS Dr Travis Brown is a General Pathologist who enjoys working in the fields of Biochemistry, Microbiology, Anatomical Pathology, and Haematology.

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