This Weekend’s Grand H@ckfest Strives to Accelerate Rare Disease Diagnoses

March 13, 2014

By Dr. Ayesha Khalid from

On March 14, MIT H@cking Medicine and the Kauffman Foundation will be kicking off THE Hackathon of all hackathons: Healthcare’s Grand H@ckfest. This hackathon will bring together a great mix of entrepreneurs, designers, engineers, and healthcare professionals to collaborate and create innovative healthcare pilots. Hackathon participants will look at the biggest pain points to create solutions and breakthroughs that will be designed and prototyped over the course of a weekend.

One track at the H@ckfest is around rare diseases. The Rare Diseases track focuses on shortening the time it takes to diagnose a person with a rare genetic syndrome by using a cool new software application, Recognyz. This app was developed as a tool to help healthcare practitioners identify facial features that are associated with rare disorders- which can shave years off of the diagnosis process. Why is this important? As a physician who has cared for patients with rare diseases, I have seen that parents usually come in when their children have ear issues and it has been a long journey that may take as long as 7-8 years to get a diagnosis. There are over 7000 rare conditions, and these can be life-threatening if not treated as well as cause years of pain and suffering for families and their children. Usually patients have to see many specialists until they find one who can pinpoint their constellation of symptoms into one particular category. In those eight years, patients may have misdiagnoses and could see more than 10 healthcare specialists.

Thanks to Global Genes, who is sponsoring this track, hackers will get to play with iterations of Recognyz and come up with other apps/usages of such H@technology. Given that rare diseases are becoming high priority for NIH funding and affect 30 million people in the US and over 350 million people globally, this track is an important step in bringing together members of the rare disease community with MIT in a way not seen before. We hope the pilots will provide health care providers a new tool to use assist in faster diagnosis of cures. The ability to equip physicians with the tools that they need to help diagnose patients quickly can be the difference between life and death, between living a good quality of life or not, and will dramatically impact the economic burden on our healthcare system. Join us by signing up on our website here:


Ayesha head shotDr. Ayesha Khalid is a sinus surgeon currently pursuing a Master’s in Business Administration at the MIT Sloan School of Management. As an ear, nose and throat surgeon, she has set-up several successful Sinonasal Institutes and conducted cutting-edge research on mechanisms of chronic sinus disease as well as quality of life outcomes research. Click here for Dr. Khalid’s full bio.

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