Orphan disease articles

Wendy White shares details of an upcoming hackathon that will help to develop a screening tool that can alert primary physicians to the possibility of a genetic disorder and suggest a possible diagnosis.

Can disruptive technologies solve the challenge of diagnosing rare diseases? There have been several attempts to compile databases and design rare disease search engines that help physicians with cases that are difficult to diagnose. But what about a screening tool—something that would alert primary care physicians to the possibility of a genetic disorder and suggest possible diagnoses? Is there a technology developed for other purposes that could serve this one?

The geneticist Sharon Moalem, MD, PhD, believes this is possible. Seven years ago, he began work on a free facial recognition tool for genetic and congenital disorders that leverages technology developed for the security industry. "What got me started was watching what families go through over the years, trying to get a medical diagnosis, " Moalem says. "I realized that sometimes there were visible clues and yet many physicians, through no fault of their own, lack the ability to diagnose in this way. Wouldn't it be great to automate this process using facial recognition technology?"

Moalem decided to take on this challenge himself and founded Recognyz Systems Technologies. "Through trial and error, we came up with a system that works well, but it uses a camera that does 3D analysis and costs $30, 000. That pushed me to develop something we could use via cell phone or mobile device."

"The current system uses high resolution cell phone photos to identify possible genetic disorders. Right now the tool does relative comparisons. It will tell you, 'This child's eyes are wide, resembling the following three syndromes.' The best tool possible would use the camera phone and give you actual measurements."

It's been a long journey, for Moalem. But if all goes well, Moalem's vision will become a reality at the upcoming Healthcare's Grand HackFest with H@cking Medicine in March. Hackathons, bring together teams of engineers, entrepreneurs, designers, patients, and healthcare professionals to develop creative solutions and innovative breakthroughs in various tracks over the course of one weekend.

"But what about a screening tool—something that would alert primary care physicians to the possibility of a genetic disorder and suggest possible diagnoses?"

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