Father of Child with Rare Disease Says Science Equals Medicine


Matt Might, Associate Professor, School Of Computing, University of Utah &
Visiting Associate Professor, Biomedical Informatics, Harvard Medical School

Chapters:

Listen 0:25 It is time to end the phrase "non actionable" (2:35)

Listen 3:02 The blog that went viral (4:04)

Listen 7:03 How scalable is the work you have done? (5:52)

Listen 12:55 Are scientists over hyping genomic medicine? (3:53)

Listen 16:48 What is your take on the Precision Medicine Initiative? (1:32)

Listen 18:20 What would you change about biomedical research? (3:46)

Matt Might came knocking on the door of genomic medicine out of pure necessity. After a four year diagnostic odyssey that led them to Duke University, Matt and his wife, Cristina, finally found out through exome sequencing that their son, Bertrand, was suffering from a rare disease known as NGLY1 deficiency. That was three years ago.

In today’s interview, we focus on what Matt did after he received this diagnosis. Through various means, mostly involving the internet, he has been able to connect with the parents of thirty seven other children with the same rare disease. As the group of patients grows, so do the options for studying the disease and for developing a therapy.

Since the president launched his Precision Medicine Initiative, we've heard from a new round of critics that genomics research just isn’t paying off. Matt’s story contradicts these criticisms.

In fact, he comes right out and says he’s on a campaign "to end the phrase, ‘non actionable.’” To Matt--who’s career has been in computer engineering--science is medicine. Matt’s connection with the rare disease community was kicked off with a personal blog he wrote that went viral, Hunting Down My Son’s Killer. Matt says with Google, blogging, and social media parents everywhere can do science. 

Prior to recording this interview, Matt was at the White House for a couple weeks helping out with the president’s new initiative. What is his take on that, and, as an outsider, what is the number one thing he would change about biomedical research?



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