The Winelands Chapter of Mensa South Africa hosts the team of Doctors Maryam Fish, Gasnat Shaboodien and Sarah Kraus as their guest speakers at their monthly meeting tomorrow, Thursday May 18, at 7.15pm.
With global collaboration, this all-female team has identified a genetic mutation which is the cause of sudden death from cardiac arrest in under-35s and in athletes.
The mutation of the CDH2 gene – a gene which is found in everyone – causes a genetic disorder known as arrhythmogenic right ventricle cardiomyopathy (ARVC).
Their discovery will permit the early diagnosis and targeted treatment of heart muscle disease. It was made possible by a new technique called whole exome sequencing, which analyses every gene in a human’s DNA.
Dr Shaboodien holds a PhD in human genetics and is the senior research officer and deputy director of the cardiovascular genetics unit at the University of Cape Town (UCT).
Dr Fish, a qualified medical doctor, is a PhD student who has spent five years working on the project, and Dr Kraus is a specialist physician and cardiomyopathy clinical research fellow at UCT.
The team will present the highlights and challenges of their 20 year journey to identify the mutation, the breakthrough methods employed, and the significance of being able to identify this genetic condition.
If you would like to attend the meeting, there is no charge and you are welcome to take a guest, but you will need to RSVP to wnl.secretary@mensa.org.za
