Genetic disease study funding

PEOPLE with genetic diseases might be closer to learning what has caused their disease, thanks to a £992,000 grant to two universities.

Frog geneticists, medical genomic research scientists and clinical geneticists at the Universities of Portsmouth and Southampton are working together to see if tadpoles can be used to discover which change to a person’s DNA has caused their rare genetic disease.

If successful, this precision medicine study will help clinicians come up with targeted interventions to help patients and their families.

The research team includes geneticists Matt Guille and Colin Sharpe at the University of Portsmouth together with computational genome scientist Sarah Ennis and professor of genomic medicine and clinical geneticist Diana Baralle at the University of Southampton.

Funding was awarded by the Medical Research Council and work is beginning in the new year.

Professor Guille said: ‘In our initial experiments to test the link between a genetic variation and a disease we found to our surprise that by altering the DNA of tadpoles, four times out of five we could re-create the disease-related changes seen in human patients.

‘We now need to extend and improve our technology to make it applicable to the wider range of disease-related DNA changes provided to us by our clinical collaborators.’

The work funded by this grant is an important step in realising the value of a causal genetic diagnosis.