Michael McBride, Martin Dillon, Prof Ian Young and Shane McKee touring the labs

Here's a paradox for you: having a rare disease is a very common problem. One hundred thousand people in Northern Ireland - one in 17 – are affected by a rare disorder, defined as a condition which affects less than 5 per 10,000 people in the population.

Even if you're lucky enough to get a diagnosis, the chances are that your doctor knows very little about your condition, so getting help can be a long and difficult journey.

There are several thousand known rare diseases, and over 80% of these are genetic in origin. Many affected patients are children, and rare diseases are a significant cause of death and disability in this group. Getting a diagnosis may take years, with multiple false turns and investigations. This can be distressing for patients and their families, and very expensive for the health service. Much of this could be avoided by early accurate diagnostic testing.

The 100,000 Genomes Project is a revolutionary NHS-wide project run by Genomics England Ltd (GEL). The Department of Health set up Genomics England in 2013. Their aim is to deliver the 100,000 Genomes Project.Each centre includes several NHS Trusts and hospitals. GMCs recruit and consent patients. They then provide DNA samples and clinical information for analysis. The NHS is leading the world in using the latest technology to analyse the complete genetic sequence of 100,000 patients across the UK with rare disorders and their family members, along with patients with cancer. Northern Ireland was invited to join the project in 2015, involving five health trusts, both universities and the NI Rare Diseases Partnership (NIRDP). Funding was provided by the Department of Health for Northern Ireland and the Medical Research Council.

Dr Shane McKee is a consultant in Genetic Medicine at Belfast Trust, and leads the Northern Ireland branch of the project. “The 100,000 Genomes Project represents a major opportunity for families to finally obtain a diagnosis,” said Dr McKee. “If we can find the precise genetic causes of these rare diseases and cancer, we can advance scientific understanding and hopefully design better treatments. We can also put families in touch with others who are in the same position, which brings benefit to patients and helps advance research. We want this project to act as a springboard towards creating a lasting legacy for patients in NI.”

Professor Mark Caulfield, Chief Scientist at Genomics England, welcomed Northern Ireland’s contribution saying, “We are delighted that Northern Ireland has joined the 100,000 Genomes Project as this is bringing new diagnoses to people with rare diseases and more personalised treatments for patients.”

Specialists in NI aim to recruit over 1200 patients and relatives with rare diseases, along with over 200 patients with cancer, but this is only the start. Dr Amy Jayne McKnight, Rare Disease Research Lead at Queen’s University said, "In Northern Ireland we are applying state-of-the-art ‘multi-omics’ approaches to improve the speed and accuracy of diagnosis for individuals with rare diseases. Moving beyond standard genetic tests provides extra information that increases the opportunity for us to discover the cause of an individual's rare disease.”

Tara Moore, Professor of Personalised Medicine at Ulster University and Research Lead for Rare Inherited Eye Disease welcomed this initiative and the involvement of Ulster University, saying, “Knowing the genetic profile of our patients offers us real potential to tailor a personalised gene therapy to repair, for the first time, the underlying mistakes in their genetic make-up. We may even, in time, be able to intervene early enough to stop potentially blinding diseases developing in children”.