Irish genomics study issues call for patients with two chronic conditions

7 Jun 2018

Image: Image Point Fr/Shutterstock

In a first-of-its-kind study, Genomics Medicine Ireland is seeking participants with two chronic rheumatic conditions: ankylosing spondylitis and non-radiographic axial spondyloarthritis.

Last month, Genomics Medicine Ireland (GMI) announced a nationwide study into the genomics of inflammatory bowel disease with the aim of finding possible genetic links as to why it develops in the human body.

Now, another study – the first of its kind – has been announced, this time to unlock the secrets of two chronic rheumatic conditions: ankylosing spondylitis (AS) and non-radiographic axial spondyloarthritis (nrAxSpA).

It is estimated that as many as 20,000 people in Ireland are living with one of these chronic inflammatory conditions.

While initially just presenting as general aches and pains in the back, they potentially progress until you have restricted spinal or pelvic mobility and, in extreme cases, this could result in the complete fusing of the joints.

On top of that, other complications include fatigue, neck pain, a stiffening of the rib cage and reduced lung capacity.

To conduct the study, GMI has partnered with University Hospital Limerick (UHL) as its first research study site into AS and nrAxSpA, with other locations to be added in the coming months.

‘Help beat it once and for all’

The study aims to identify and examine the underlying genetic factors that are common among people with AS or nrAxSpA.

In doing this, researchers could identify commonalities and linkages that can help diagnose the diseases early on, predict their severity, and suggest personalised treatments and possibly a cure.

Anyone diagnosed with AS or nrAxSpA who attend UHL and are interested in taking part in the study are encouraged to talk to their consultant to find out more information.

“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,” said Dr Alexander Fraser, a consultant rheumatologist at UHL.

“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 groundbreaking study, which aims, literally, to find the very genetic make-up of this disease and help beat it once and for all.”

Colm Gorey was a senior journalist with Silicon Republic