Leading experts are hosting a special event to highlight pioneering genetic work carried out at Newcastle University.

Genetic Matters will focus on a series of high-profile talks, including mitochondrial donation, the future of genetic diagnostics and life after being diagnosed with a rare illness.
 
The 100,000 Genome Project, which is co-led by Newcastle Hospitals NHS Foundation Trust, will also be discussed. The world-leading scheme aims to map 100,000 complete genetic codes to uncover DNA data that can be used to develop personalised diagnostic procedures and drugs.
 
Dr Katarzyna Pirog, Lecturer in Musculoskeletal Genetics at Newcastle University and Chair of the of the Institute of Genetic Medicine Public Engagement Committee, said: “Genetics Matters is an event designed specifically for members of the public, and is an exciting opportunity to meet scientists and learn about the state-of-the-art genetic research that happens at Newcastle University.
 
“With a series of high profile talks, presentations from patient groups and charity organisations, and hands on research tables, it is a packed day giving everyone a chance to talk to real scientists and ask them any questions to do with genetic research.”     
 
There are more than 8,000 rare illnesses and one in 17 people in the UK has a rare genetic disorder. Although each rare disease affects a small number of people in the country, as much as 6% of the population are impacted in one way or another.
 
Prof Patrick Chinnery, from Newcastle University’s Institute of Genetic Medicine and honorary consultant of neurogenetics at Newcastle Hospitals NHS Foundation Trust, said: “Each rare disease can be very different from the other, but understanding what causes rare diseases, and developing treatments for rare diseases, often has implications for much more common medical conditions.
 
“In the last few years there have been enormous advances in our understanding of the causes of rare diseases, and in some instances this has led to new treatments.
 
“The Institute of Genetic Medicine at Newcastle University has played a key role in these research advances for a number of different rare diseases, placing the people of the North East at the heart of this ground-breaking research.”
 
Prof Sir John Burn (pictured), Professor of Clinical Genetics at Newcastle University and honorary consultant clinical geneticist at Newcastle Hospitals NHS Foundation Trust, will close the event with a talk about the future of rare disease research.
 
He said: “There are more than 8,000 rare diseases, mostly due to faults in one or more genes and the number grows as sequencing gets cheaper and faster. One in 17 people has a rare genetic disorder and providing their care is a major health cost.
 
“As we learn how these rare diseases are caused we gain new insights into the causes of common diseases and can use this to develop new treatments.”
 
Genetic Matters is part of the National Institute for Health Research Newcastle Biomedical Research Centre's Public Engagement programme, and the event is open to public and patients. It will take place on Friday, February 27, from 10:45am until 5pm, at the Great North Museum: Hancock in Newcastle.
 

published on: 26 February 2015