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New research confirms major gaps for rare disease multi-omics research

'Multi-omics' is a relatively new approach being used to help diagnose and understand rare diseases. Our PhD student, Katie Kerr, has a new protocol published describing a comprehensive review of multi-omics literature for rare diseases.

Katie Kerr's latest research protocol describes a gold-standard approach to evaluate primary research conducted using multi-omic approaches for rare disease.

Living with a rare disease is often very challenging.  Although individually rare, there are more than 110,000 individuals across Northern Ireland living with a rare disease - that is a lot!  There are thousands of rare diseases and one in every seventeen people will be affected at some point in their lives.

A major challenge for many individuals living and working with rare diseases is the often long, complicated process of getting a diagnosis.  Many individuals report waiting many years on their diagnosis with multiple false turns, too many tests, and some people never get a name for their rare disease.  That situation is very frustrating, often expensive, and needs a better approach.

Across the world, researchers are actively working to find a better approach to diagnosing these rare conditions.  In Northern Ireland we formed the NI Genomic Medicine centre led by Dr Shane McKee, Belfast Health and Social Care Trust with major contributions from the Department of Health, all local health Trusts, Queen's University Belfast, Ulster University, and the Northern Ireland Rare Disease Partnership.  This enabled a small group of individuals from Northern Ireland to take part in the 100,000 genomes project, which has led to the creation of a new genomic medicine service in England.  Although only a small exploratory study for 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.

This scoping review protocol describes how to systematically summarise what research has been conducted into multi-omics and rare disease by:

  • Evaluating what primary research studies exist

  • Highlighting research outcomes with implications for rare disease diagnosis, treatment or improved understanding of disease mechanisms.

Although a fair way down the road before such multiomic testing becomes part of routine care, such research is already advancing diagnoses and personalising treatments for many individuals.  If we can use these new tools to find the molecular cause of rare diseases, then we can build on our scientific understanding, help design better, therapies, put people in touch with relevant public and professional support networks etc.

We are keen that everyone has access to our rare disease research so there are no charges associated with reading the full research protocol.   

Katie Kerr is funded by a CAST PhD studentship by the Department for the Economy and Belfast Health and Social Care Trust as part of the NI Genomic Medicine Centre project, which is funded by the Department of Health NI and the Medical Research Council.

Photo: AJ McKnight
AJ McKnight
Centre for Public Health, QUB
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For more information, please do get in touch via email