This Pathological Life Podcast - S2E33: Ep 33 Genetics Pathology | Fragile X: The Fra(X)-men

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

03/29/21 • 38 min

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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’.

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.

See omnystudio.com/listener for privacy information.

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

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

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

See omnystudio.com/listener for privacy information.

Previous Episode

S2E32: Ep 32 The Social Media Literati

Information in the past (ergo knowledge) was restricted to the few. However, the social media landscape provides individuals with their personal megaphone to the world.

As most are aware, there are numerous benefits this provides, such as engaging directly with an audience. However, these benefits have to be balanced with a price, namely personal data and professional boundaries.

Traditionally, Medical Practitioners, Doctors, and Specialists have approached social media cautiously.

We discuss the pros and cons of medical practitioners accessing/using social media with Lee Aase, Director, Mayo Clinic Social Media Network and Mayo Clinic’s Social & Digital Innovation team. For Lee, he has been working in the social medial field for over twenty years from politics to medical institutions.

We discuss what information is being collected, how that can be used, and the best way Doctors can use social media.

GUEST INTERVIEW

Lee Aase

Director, Mayo Clinic Social Media Network

[email protected] | @LeeAase

Lee Aase is director of the Mayo Clinic Social Media Network, which provides training resources, educational and networking events and a collaboration platform for health care professionals who want to safely and effectively apply social and digital strategies to fight disease, promote health and improve health care.

Lee also leads Mayo Clinic’s Social & Digital Innovation team, which manages Mayo Clinic’s presence on general purpose social networks like Facebook, YouTube and Twitter as well as its owned blog and community platform. Key sites include Mayo Clinic Connect, an online patient community, Mayo Clinic News Network, and Sharing Mayo Clinic, a patient stories blog.

Prior to joining Mayo Clinic in 2000, Lee spent more than a decade in political and government communications at the local, state and federal level. He was elected to Mayo Clinic’s Voting Staff in 2016. In 2018 he received VitalSmarts certification as a trainer in the Getting Things Done (GTD) methodology for stress-free productivity.

See omnystudio.com/listener for privacy information.

Next Episode

S2E34: Ep 34 Hodgkin Lymphoma Pathology | Almost Lardaceous Disease

Hodgkin Lymphoma, formerly known as Hodgkin disease, is a cancer of the lymph node(s).

First described by Thomas Hodgkin (1832) where he wrote a paper titled ‘On Some Morbid Appearances of the Absorbent (now Lymphatic) Glands and Spleen’. However, the significance of this did not become apparent until decades later.

Hodgkin Lymphoma is the most common malignancy of adolescents and young adults.

This used to be a fatal disease but because of meticulous studies, research, modern medicine and advances in treatment, the prognosis is excellent.

Our interview is with Dr Bradley Webster, Histopathologist specialising in Uropathology and Lymphoid Pathology and this section of the podcast is eligible for 1 RACGP CPD point – self reporting.

See omnystudio.com/listener for privacy information.