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A recent study led by the Centre for Human Genetics at the Nuffield Department of Medicine has revealed that areas of the human genome that are routinely overlooked in clinical tests may be the cause of some rare diseases.

A female researcher working at a laboratory

Assessing 122 patients with genetic conditions including rare forms of heart arrhythmia, brain inflammation, inflammatory bowel disease and kidney abnormalities, the study looked at areas of the genome often considered to be ‘junk DNA’ because it does not relate to the production of proteins.

Variants involving this non-coding DNA were found to be a factor in a number of patients. Five genes that are novel, or were novel at the time of discovery, were identified, whilst another three genes were suspected of causing rare medical conditions.

As a result of the study, clinical diagnoses were changed in six patients and treatments were adjusted for eight. For five of these patients, this intervention was considered to be lifesaving. The research also led to the development of UK guidelines on the use of genomics in the NHS, informed by contributions from patients enrolled in this study.

The paper presented the findings of a major project led by researchers at the Centre for Human Genetics at the Nuffield Department of Medicine (NDM), supported by the Oxford Biomedical Research Centre (BRC). The study, published in the journal Genomic Medicine, and presented at the American Society of Human Genetics’ annual meeting in Washington DC in November 2023, was funded by the Wellcome Trust and Department of Health and Social Care as part of the Health Innovation Challenge Fund.


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

This story is also featured on the NIHR Oxford Biomedical Research Centre website