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The multicentre research, led by Queen Mary University of London and including a number of researchers supported by the NIHR Oxford Biomedical Research Centre (BRC), used a new analytical approach for identifying the genetic basis of rare diseases, which could diagnose more cases and help develop new treatments for patients.
Rare diseases affect between four and six percent of people worldwide. Despite advances in genetic testing, the lack of evidence on the genetic variations that could lead to disease results in up to 80% of people who have a rare disease remaining undiagnosed even after genomic sequencing.
The international team of researchers developed an analytical framework for identifying the genetic causes of Mendelian diseases – diseases caused by mutations in a single gene that sometimes run in families – through rare variant gene burden analysis and applied it to the genetic records of 34,851 people and their family members (72,690 genomes in total) from Genomics England’s 100,000 Genomes Project.