Earlier this month Healthcare’s Grand H@ckfest took place at the Massachusetts Institute of Technology as part of MIT’s H@cking Medicine initiative. The hackathon gathered entrepreneurs, designers, engineers, and medical professionals together to create innovative and accessible healthcare tech to improve all aspects of healthcare.
At the gathering there was a team dedicated to producing a piece of technology designed to improve the lives of rare disease patients. The rare disease group, lead by The Global Genes Project, were handed the foundations of a new mobile phone app called Recogynz.
Recogynz makes use of advances in face recognition technology developed in the security sector to identify facial characteristics that are often associated with particular rare diseases using a mobile phone camera.
The hackathon represented beginning of the final stages of development Recogynz, whose developer author and geneticist Sharon Moalem, MD, PhD, has sunk seven years of development and a substantial sum of money into the project.
The work of the rare disease group to improve image capture and re-jig the diagnostic algorithms allowed the app to diagnose three rare conditions based entirely upon facial features captured using a mobile phone camera: Marfan’s, Kabuki and Waardenburg syndromes.
Another set of students began to explore the use of the phone’s camera to track eye movements with a view to identifying any underlying neuromuscular diseases.
Whilst the app is far from finished, it represents a future in which it is cheap and simple to diagnose many rare diseases.
One of the greatest barriers to a rare disease diagnosis, which can often take around 7 years, is a lack of knowledge on the front line of health care.
This app can allow patients to be diagnosed without their GPs necessarily having to have been educated about the particular disease. This could dramatically reduce the time to a diagnosis, without overwhelming the small infrastructure provided by rare disease experts across the world.
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