Rare genetic diseases and genomics: past, present and future – public lecture by Professor Eamonn Maher
- Professor Eamonn Maher is the Dean of Aston Medical School
- His inaugural lecture is entitled ‘Rare diseases and Genomics: Past, Present and Future
- Professor Maher is an expert in medical genetics and genomic medicine.
The Dean of Aston Medical School will give 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 University of Cambridge. He has published extensively on rare diseases and genomics in the fields of cancer genetics, human developmental genetics, epigenetics and genomic imprinting.
Rare diseases are defined as disorders affecting fewer than 1 in 2000 people, but with more than 7,000 known rare diseases, collectively they affect a significant number of people.
Historically the diagnosis of rare diseases has often been delayed and treatment options limited, but about 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 disorders.
In his lecture, Professor Maher will draw upon his experience as a clinical geneticist and researcher to illustrate how analysing the genetic basis of rare diseases can provide critical insights into the causes both rare and common diseases and lead to the development of novel approaches to treatment.
Professor Maher said:
“As well as reviewing the impact of our research, I will also look at current challenges in clinical genomics and explore the role of genomic medicine in future health care.”
The lecture on 6 June 2024 will take place at 18:30 GMT in the Susan Cadbury Lecture Theatre at Aston Business School. For tickets please visit the Eventbrite page. The lecture will also be streamed online. The event is free of charge and will be followed by a drinks reception.
