rare disease

In a field full of amazing people, no one --- no one -- is more remarkable than Sharon Terry. And this is despite (or perhaps because of) the fact that she is not, technically, in the field at all: Sharon Terry is, as her bio describes her, “just a mom with a master’s degree in theology.” Sharon’s personal story of a journey from the worst form of heartbreak and disempowerment – the discovery that both of her young children had a rare genetic disease with a bad prognosis – to become a role model for parent activists everywhere. Sharon’s work as the head of the Genetic Alliance is legendary for the way it has platformed (literally) hundreds of disease communities ranging from small to microscopic so that they could speak to one another, and so that the Genetic Alliance could speak for all of them, a collective army of the individually rare.

Now, Sharon is planning an even bolder move: to bring the promise of genomic medicine to the whole damn world. Beginning in 2023, the iHope program will use an enormous grant from genomics giant Illumina to sequence sick kids and others in Africa, Southeast Asia, and South America (as well as other neglected places, some of them right here in the US).

Sounds impossible, right? Tell that to a mom on a mission!

A conversation with Dan Navon, associate professor of sociology at the University of California, San Diego, and the author of Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy. Dan’s book encourages us to pay attention to the subtle way in which defining conditions according to their underlying genetics affects the patient experience, from shaping identity to creating a sense of solidarity within disease communities. Plus (spoiler) Dan will explain why he calls genetic counselors the ‘secret heroes’ of his research.

22Q11 Deletion Syndrome – the most common version of a rare thing, affecting close to 1 in 1000 births – is no picnic for genetic counselors. Presentation is complex and unpredictable and can include structural, developmental, and behavioral manifestations. The history of 22Q is a mirror of genomic medicine, with diagnosis by phenotype giving way to diagnosis by genotype, and in the process expanding our definition of “affected.” Donna McDonald-McGinn, who has been working with families dealing with 22Q11 Deletion Syndrome at the Children’s Hospital of Philadelphia for over 2 decades, is on a first-name basis with much of that history, and comes on the Beagle today to share her enthusiasm for working with this special community, and discuss the arguments for adding 22Q to the current Newborn Screening panel – and what the recent New York Times article on microdeletion testing in the prenatal phase got wrong.

Laura talks today with John Greally, a pediatrician and epigenomicist with appointments in Medicine, Pediatrics and Genetics at Einstein Medical Center in the Bronx. John is the founding director of Einstein’s Center for Epigenomics, and an innovator who has looked hard at how to improve the integration of genetic testing into clinical practice.

Note from the Host: I’d like to mention here that this interview was taped at a very particular moment in time, as New York City was struggling to recover from the horror that was April 2020, and just prior to the public execution of George Floyd and ensuing movement for social justice in the U.S. and abroad. I chose not to publish this interview in the weeks immediately following Floyd’s death, given the emotional and political significance of the protests and the importance of the resultant public dialogue. Listening to this interview today, it feels strangely dated for a conversation that took place only weeks ago. What can I say? The world moves fast sometimes.

David Goldstein is a self-described “geneticist for hire.” It’s been five years since he arrived in New York as the inaugural director of the Institute for Genomic Medicine at Columbia University Medical Center, and despite his California roots, the city has adopted David as a native son (no, seriously, he is often mistaken for a native New Yorker. Why? I have theories…).

In a wide-ranging conversation, David and I discuss progress at the IGM, his views on the genetics of common disease (wherein I try to get him to reprise controversial comments from the past, with mixed success) and the global movement to fight Covid-19, including their own work, right here in the heart of the world’s hardest hit regions. He’s definitely a New Yorker now!

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.

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’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.