The Global Genes RARE Advocacy Summit in September 2023 provided a forum for me to talk, for the first time, about my upcoming book and how rare disease communities have been a key part of my professional life. Here’s a set of questions that Sravanthi Meka of Global Genes asked me in advance of the meeting: […]
Rare Disease
Transforming research participation
Below is a letter I wrote in response to Tania Simoncelli’s article, “From Bedside to Bench and Back,” (Issues in Science and Technology, Summer 2023). Read all the responses here. Biomedical research has blind spots that can be reduced, as Tania Simoncelli writes, by “centering the largest stakeholders in medicine—the patients.” By focusing on rare […]
Whose needs are not met?
For years I tried to find ways to explain the particular challenges facing people with undiagnosed and rare health conditions. I decided to create a visualization showing the wide spectrum of people’s health needs and I’d like some feedback on it. Imagine a horizontal line. At the far left side are the people whose needs […]
Chasing cures
Bon Ku, MD, a regular on the TV show “Chasing the Cure,” and David Fajgenbaum, MD, MBA, author of CHASING MY CURE, invited me to join their upcoming panel at the Health Datapalooza. Guess what title we chose? We are nothing if not consistent: Chasing cures. We intend to focus on how open source principles can break […]
Chasing cures
Years ago, I met a mom of a child with a rare disease who matter-of-factly shared her story, which included as many twists and close calls as any blockbuster summer movie. I marveled at her heroism and she said no, she rejects that description. “I’m not a hero,” she insisted. “I’m a typical mom. You […]
A helping hand, just in time
Some years ago a few colleagues and I got stuck at Logan Airport and we started telling stories to pass the time. One tale has come back to me over and over again, particularly as I cared for my dad during his last year of life, because it reminded me to be open to the possibility […]
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