rare disease


Heidi Rehm

Geneticist Heidi Rehm of Harvard Medical School and the Broad Institute has helped develop many of the tools that are fundamental to our ability to harness genomic variation for medical care: ClinGen, ClinVar, Matchmaker and others. Heidi has been called “a pioneer of open science and data sharing.” Today she joins us on the Beagle (a Corona-free zone) to talk about the remarkable extent, in the midst of an era of competitive and market-driven science, to which the field of genomics has been able to develop not only the tools but also the will to collaborate in the pursuit of better patient outcomes.

Ethan Weiss and the Story of Ruthie Weiss

Prenatal testing was a normal part of life for UCSF cardiologist Ethan Weiss and his wife when they were expecting their second child, something you did without a second thought. But thirteen years after the birth of Ruthie Weiss, Ethan has plenty of second thoughts about assumptions people make – assumptions he would have made – about the relative burdens and benefits of a life with a different set of challenges. Would Ruthie’s life be better with her albinism? Would their life as a family be better? Would society be better off without Ruthies? Definitely not, says Ruthie’s dad. Not an argument against prenatal testing – but Ethan’s story presents a very salient case for the importance of not testing “without a second thought.”

 

Penny Wolfson and Ansel Lurio

Penny Wolfson’s book, Moonrise, grew out of her experiences after the diagnosis of her oldest son Ansel Lurio with Duchenne Muscular Dystrophy.

Today Ansel is 34 and his biography far exceeds the limited expectations of the neurologists who counseled his parents when he was a toddler. Penny credits incremental improvements in care for the successes they’ve had to date.

Her message to clinicians? Never assume you know for sure what the future will bring.