Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

A landmark study involving researchers from NDM’s Centre for Human Genetics has identified 69 previously unidentified genetic determinants of rare disease, including uncommon forms of epilepsy and schizophrenia.

Researcher working in a lab © University of Oxford Images / John Cairns

The multicentre research, led by Queen Mary University of London and including a number of researchers supported by the NIHR Oxford Biomedical Research Centre, 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 percent 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.

Read the full story on the Nuffield Department of Medicine website.  

Similar stories

Nearly 500,000 children could die from AIDS-related causes by 2030 without stable PEPFAR programmes, Oxford experts estimate

Oxford experts estimate that 1 million additional children could become infected with HIV and nearly 500,000 children could die from AIDS by 2030, while as many as 2.8 million children could become orphaned in the next five years if US President’s Emergency Plan for AIDS Relief (PEPFAR) programmes are reduced or eliminated.