5:10 - 5:30 pmSaturday, September 26
LK 130
Saving black swans: What do you do when you're the first and only?
LK 130
Saving black swans: What do you do when you're the first and only?
Physician, University of Utah
The widespread availability of sequencing is creating an explosion of “one of a kind” disorders.  Patients are being told in record numbers: “You are the first and only we’ve ever seen.” ... Read more

Description

The widespread availability of sequencing is creating an explosion of “one of a kind” disorders.  Patients are being told in record numbers: “You are the first and only we’ve ever seen.”  Not long ago, the diagnosis and discovery of these “black swan” disorders would have been devastating.  But, social media and precision medicine are making it possible to fight and win against even the rarest diseases.  Dr. Might paints a vision of precision science and medicine at the fringes of human knowledge through the story of his son — the first patient ever diagnosed with the novel disorder N-glycanase (NGLY1) deficiency.  Might’s targeted use of social media for case-finding made it possible to find undiagnosed and misdiagnosed NGLY1 patients as far away as India in mere months rather than years.  Two and a half years later, a tight-knit community of  26 NGLY1 cases has established a global, patient-driven research coalition that is rapidly bringing the disease to heel through breakthroughs in the cell biology of the disorder.  Early therapies have already been identified and trials for targeted treatments are within striking distance.  Ultimately, the NGLY1 community seeks to discover more than a cure for N-glycanase deficiency; it is also discovering a sustainable, scalable model for understanding, treating and curing the rarest of diseases.

Through the lens of NGLY1 deficiency, the talk will illustrate a rare disease roadmap: it will briefly discuss going from undiagnosed to “one of a kind,” and then focus on answering two questions: how do you create a patient community from scratch, and how can small patient communities drive the science?  While the examples of steps on the roadmap are drawn from the NGLY1 community, the action items are general, so that other patients and communities figuring out how to take the “next step” on the road to understanding and treatment may do so as well.

Matt Might is passionate about patient-driven precision medicine, accelerating drug development in rare disease and bending the cost curve in medical research with computation and social media. He is an active advisor to the newly established Undiagnosed Disease Network Coordinating Center at Harvard University, and he is a working group member for the President's large-cohort precision medicine initiative.

Dr. Might is also the father of the first patient ever discovered with a novel ultra-rare disorder, N-glycanase (NGLY1) deficiency. Diagnosed via exome sequencing in 2012, NGLY1 deficiency is estimated to have an incidence of roughly 1 in 5 million live births.

After being told it would take years or even decades to discover a second case, Dr. Might applied his expertise as a professor in computer science to find more cases through social media. It took two months to find the second case. In parallel, Dr. Might launched a collaboration with glycobiologist Dr. Hudson Freeze to understand and ultimately treat the disorder.

Two and a half years and 25 confirmed cases later, what began with one child and one research lab has become a patient-driven precision medicine research network spanning the globe. The network is dedicated to understanding, treating and curing the disorder. Several potential treatments are now being tested and nearing clinical trials.

Seth Mnookin chronicled the family's journey to a diagnosis, their use of social media to find patients and the establishment of the patient-driven research network in The New Yorker.

Contact Us

We're not around right now. But you can send us an email and we'll get back to you, asap.

Not readable? Change text. captcha txt

Start typing and press Enter to search