A multi-omic approach to diagnosing rare disease

A paradox of rare diseases is that they are individually rare, yet cumulatively over 350 million people are affected by rare diseases worldwide. There are approximately 8000 rare disorders, very often with variable clinical presentations, which makes diagnosing rare diseases challenging. Two in five rare disease patients report difficulties obtaining diagnosis, with many patients waiting several years between first symptoms and diagnosis. Without diagnosis patients report decreased quality of life, negative impacts on mental health, poor prognosis and difficulties in accessing an effective treatment plan. Therefore recent research has been focused on improving diagnosis, including molecular characterisation of a rare disease using multi-omic approaches. This evaluates differences at the genomic sequence level, such as whole genome sequencing through the 100,000 genomes project, but also examining epigenomic changes such as differential methylation.

This project reviews current research into multi-omics of rare disease and ultimately leverages multi-omic analyses to identify diagnostic biomarkers where whole genome sequencing has been insufficient to render a diagnosis. These allied approaches to improve rare disease diagnosis will benefit people living and working with rare disease and provide insight into the biological mechanisms of disease leading to potentially novel therapeutics.