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Family Photos Hold Clues to Medical Diagnoses

Posted By Prucia Buscell, Thursday, June 26, 2014
Updated: Wednesday, July 2, 2014

Family pictures may record more than milestone events and the little incidents we love to remember. New technology may help doctors identify rare genetic conditions by analyzing ordinary digital photos of faces. Facial recognition software may even be useful in identifying presently unknown rare disorders with symptoms that baffle families and doctors.

A New Scientist story by Andy Coghlan explains that while genetic tests exist for common conditions, such as Down's syndrome, genetic tests for many more unusual conditions aren't available because the gene variants that cause them haven't been discovered. A story in The Independent by Charlie Cooper explains that 30 to 40 percent of genetic disorders involve some kind of change to the face or skull. Software developed at Oxford University by medical researchers collaborating with the university's Department of Engineering Science was initially "trained" by analyzing thousands of photos of people diagnosed with eight genetic disorders. Coughlin's story explains that the computer "learned" to identify each condition from a pattern of 36 features in each face.

Christoffer Nellaker, who designed the software with Oxford colleague Andrew Zisserman, believes it can help family doctors and general pediatricians make preliminary diagnoses of health conditions that may have puzzled them. In the future, Nellaker told The Independent, a doctor anywhere in the world should be able to take an ordinary smartphone picture of a patient, run a computer analysis, and find out which genetic disorder a patient is likely to have. The technology isn't meant to replace traditional diagnoses, but to aid it by giving doctors information not otherwise available to them.

Alastair Kent, director of the Genetic Alliance UK, a charitable organization dedicated to helping people with genetic disorders, told New Scientist that because few physicians are skilled in the diagnostic use of facial analysis, families often wait years to learn the cause of their children's problems. Many of the combinations of facial characteristics that have diagnostic significance would be undetectable to a layman.

The Oxford database now has nearly 3,000 photos, and the software can recognize 90 disorders. As the database grows, the software will enable researchers to study groups of patients with undiagnosed problems who share similar facial features and skull structures. That could allow researchers to identify presently unknown disorders and the explore the gene variants that cause them, which could potentially improvement treatment.

Some visual characteristics associated with genetic disorders are well documented. Scientists studying Abraham Lincoln's height, long arms, and big hands and feet believe he had Marfan syndrome, a genetic disorder that also impacts the connective tissue and heart. NBA prospect Isaiah Austin's dreams of a basketball career were dashed by a diagnosis of Marfan syndrome. Williams syndrome and DiGeorge syndrome, both genetic disorders that impact learning and behavior, have been associated with certain combinations of facial characteristics.

Tags:  buscell  complexity matters  health  research 

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