Cutting-Edge Genomic Research Launches at University Hospital Limerick

GMI collaborating with UHL in first-of-a-kind study into two chronic rheumatic conditions:
Ankylosing Spondylitis & Non-Radiographic Axial Spondyloarthritis

Irish life sciences company Genomics Medicine Ireland Ltd. (GMI) today announced the launch of a landmark genomic study into two chronic rheumatic conditions: Ankylosing Spondylitis (AS) and Non-Radiographic Axial Spondyloarthritis (nrAxSpA).

There as many as 20,000 people in Ireland living with one of these chronic inflammatory conditions, which initially presents as general aches and pains in the backs before potentially progressing to restricted spinal or pelvic mobility and, in severe cases, complete fusion of the joints. Associated issues are fatigue, neck pain, a stiffening of the rib cage and reduced lung capacity, and many other complications.

Currently there is no cure for either of these conditions: certain drug and physical therapy treatments are known to alleviate symptoms and somewhat slow the rate of progression, but there is not yet any medication or procedure that has been shown to fully prevent disease development.

Genomics Medicine Ireland has partnered with University Hospital Limerick as its first research study site examining AS and nrAxSpa conditions as part of an all island study rolling out in the coming months. The study aims to identify and examine the underlying genetic factors that are common amongst people with AS or nrAxSpA, with the objective of identifying commonalities and linkages that can help diagnose the diseases early on, predict their severity, and suggest personalised treatments - or even a cure.

Genomics involves the study of a person's genome - that is, their entire set of DNA and other non-coding elements of their genes (such as RNA), plus the individual's background and lifestyle factors, providing a more complete picture for genetic research.

Dr. Alexander Fraser, Consultant Rheumatologist at University Hospital Limerick, commented, “I've had the privilege of meeting many wonderful patients during my 20 years working in the area of Ankylosing Spondylitis, but what has struck me most during that time is the intolerable pain they must endure internally while appearing relatively unaffected to those around them. Thankfully, more effective treatments have become available in the last number of years to help alleviate this, but the next big step is to identify the genetic markers that will predict the onset of the disease before pain and damage occurs, in addition to providing tailored, accurate treatments. It is therefore very exciting for my team and I to be the first rheumatology group in Ireland to partner with GMI in enrolling patients for this ground-breaking study, which aims literally to find the very genetic makeup of this disease and help beat it once and for all.”

Dr Rory Mooney, AS patient and Co-Founder of Class Medical, added, “Though I was born with Ankylosing Spondylitis, the condition was not correctly identified until I was in my thirties, by which time the inflammation had caused significant tissue damage. The incredible potential of this genomic study is that it could possibly discover the condition in from very early on, meaning its early treatment and management. I can't express enough how extremely beneficial this would be to people with AS or nrAxSpA, which are often difficult to diagnose. Genomic research such as this really is the future of medicine, and I encourage anyone with these conditions to participate in the study so that together we can help fight them successfully.”

Sean Ennis, Chief Scientific Officer of Genomics Medicine Ireland, said, “AS and nrAxSpA have a high prevalence of heritability which makes these conditions ideal for genomic research, allowing us to investigate commonalities and linkages that can help shed some light on these conditions. Our aim is to focus on discovery which can lead to the development of personalised treatments that will finally alleviate symptoms for patients and possibly one day even find a cure.”

People with AS or nrAxSpA who are attending UHL and who are interested in participating in the research can ask their consultant for more information.