07 September 2017

People urged to share selfies for science

Western Australians are being encouraged to share their selfies for science to help researchers gain new insights into rare diseases.

In a ground-breaking international medical research project, a team of researchers plans to use the photographs to teach computers how to “read faces”.

WA Health clinical geneticist Gareth Baynam was an adviser to the project Minerva and Me, which is being led by researchers from Oxford University in England.

He said anybody contributing a photograph to the project would be helping the estimated 350 million people around the world living with a rare disease – including more than 60,000 children in WA.

“Subtle variations in facial features – sometimes imperceptible to the naked eye – can be markers of rare genetic conditions,” Dr Baynam said.

“What this project hopes to do is use the photographs to teach computers to read faces and identify facial variations that can be markers of these diseases.”

Dr Baynam, who heads Western Australia’s Undiagnosed Diseases Program, said a secure website had been established especially for the project.

He said the researchers hoped contributors would also encourage blood relatives to contribute a photograph of themselves because information from family members – with and without rare conditions – could be critical for assisting diagnoses.

Rare diseases are conditions, usually genetic in origin, which affect fewer than one in 2000 people. They include conditions such as muscular dystrophy, cystic fibrosis, neurofibromatosis, early-onset Parkinson’s disease, Huntington’s disease and early-onset Alzheimer’s.

Dr Baynam is leading another research project that is looking to faces for insights into rare diseases. His project involves taking three dimensional scans of faces.

He said work was also planned to explore how learnings from standard photographs and 3D facial images could be combined to create new diagnostic and treatment monitoring solutionsThe end goal of both his project and Minerva and Me is to develop non-invasive tools that will assist doctors to diagnose rare diseases and monitor the effectiveness of subsequent treatments and therapies.

Dr Baynam said about 30 per cent of rare disease patients waited up to 30 years for a diagnosis and that roughly the same figure saw six or more doctors before receiving a diagnosis. Nearly half were given an initial diagnosis that was wrong.

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