Irish life-sciences company, Genomics Medicine Ireland Ltd. (GMI) announced on Tuesday that it has partnered with Temple Street Children’s University Hospital and the UCD Academic Centre on Rare Diseases (ACoRD) to launch a groundbreaking research study which will examine children with rare undiagnosed genetic disorders attending Temple Street, and their parents in order to identify the key genetic components of rare disorders. The study will combine advanced scientific technology in genomics, the study of all of a person’s genes, together with detailed clinical information to identify the genetic cause of rare disorders affecting/amongst families in Ireland.
Director of UCD ACoRD Sean Ennis said: “This study will give us a greater understanding of the role of genetics in rare disorders for faster and more accurate diagnoses for patients and to help in the development of more targeted therapies for treating these conditions. Ultimately, in the longer term, we are looking to gain insights that will lead to the prevention of these conditions.”
Rare Disorders affect an estimated 300,000 people in Ireland meaning one person in 12 may have a rare disease at some stage in their lifetime.
Temple Street Children’s University Hospital Research Manager Tara Raftertry said “Genome studies hold significant potential to deliver improvements in the quality of life for future generations of children with rare conditions. The route to diagnosing these disorders often involves multiple tests, some of which can be invasive. We can render these kind of tests unnecessary if we can get better insight to the cause of the rare disorder from the outset.”
Genomics Medicine Ireland hopes to quickly expand the research activity in Rare Disorders beyond the charter study at Temple Street to other research centres in Ireland. It will also be launching additional studies in a number of major chronic and incurable conditions where there is a need to better understand the role genetics and lifestyle play in disease and disease progression.