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Published: 16 March 2023

Scientists at St George’s, University of London have identified new genetic changes in people with primary lymphoedema, according to research published today in the journal Nature Medicine.

This stems from an international collaboration led by researchers at the Icahn School of Medicine at Mount Sinai in the US, who have developed a new platform to analyse large genetic datasets from people with rare diseases.

Affects one in 6,000 people

Primary lymphoedema is a rare, inherited condition that affects just one in 6,000 people. It is caused by genetic defects to the lymphatic vessels that often lead to disabling swelling of the limbs and other parts of the body. The underlying cause is unknown for about 75% of patients, which means many are without a genetic diagnosis and cannot be treated effectively.

Researchers looked at a collection of 269 types of rare diseases using data from 77,539 people in the 100,000 Genomes Project, one of the largest datasets of whole-genome-sequenced rare disease patients.

Unveiling four genetic changes

Through using this platform, Professor Pia Ostergaard and the team found four changes to the ERG gene – which is usually associated with how well blood vessels work – of some patients with primary lymphoedema. They now want to understand how these changes impact the protein function in the lymphatic vessels.

Driving search for new treatments

“This is another piece of a complex puzzle. We are chipping away at unearthing the changes in the DNA of people living with primary lymphoedema so we can ultimately give them a genetic diagnosis. There’s still a lot more research to do, but every genetic change we identify could help to develop new treatments.”

- Professor Pia Ostergaard, Professor of Human Genetics -

This work was supported by the Medical Research Council and the British Heart Foundation.

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