The Dean of Aston Medical School will deliver a public lecture on rare genetic diseases and new insights from genomics at Aston University on 6 June 2024.
Professor Eamonn Maher joined Aston University in October 2023 from the Department of Medical Genetics at the University of Cambridge. He has published extensively on rare diseases and genomics in the areas of cancer genetics, human developmental genetics, epigenetics and genomic imprinting.
Rare diseases are defined as diseases that affect fewer than 1 in 2,000 people. However, with more than 7,000 rare diseases known, they affect a considerable number of people overall.
In the past, diagnosis of rare diseases has often been delayed and treatment options have been limited, but around 80% of rare diseases have a genetic basis and advances in genomic technologies such as genome sequencing are now enabling earlier diagnosis and providing insights into potential treatments for some conditions.
In his lecture, Professor Maher will draw on his experience as a clinical geneticist and researcher to illustrate how analysing the genetic basis of rare diseases can provide important insights into the causes of rare and common diseases and lead to the development of novel treatment approaches.
The lecture on 6 June 2024 will take place at 6:30 PM GMT in the Susan Cadbury Lecture Theatre at Aston Business School. Tickets can be obtained from the Eventbrite page . The lecture will also be streamed online . The event is free to attend and will be followed by a drinks reception.
