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GenePod: Genetics in Medicine’s Podcast
GenePod is the podcast from the journal Genetics in Medicine. Join us as host Cynthia Graber delves into the latest research in medical genetics and genomics, featuring content from this leading journal.
Tune in here for archived episodes: iTunes, Google Podcasts, RSS Feed.
3 Results
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May 4, 2023
May 2023: How might medical geneticists prepare for the advent of gene therapy treatments of genetic diseases?
For decades, gene therapy has been seen as something that is just around the corner, but not yet here. Today, though, the past barriers to gene therapy have been largely resolved, and there are now more than 300 non-oncology gene therapies in development and more than 2,000 trials in process. To address the role of medical geneticists in this future treatment, a team of researchers recently authored a commentary in Genetics in Medicine titled, “The evolving role of medical geneticists in the era of gene therapy: an urgency to prepare.” Jerry Vockley, MD PhD, chief of genetic and genomic medicine at the University of Pittsburgh School of Medicine, and Nina Gold, MD, attending physician in medical genetics and metabolism at Massachusetts General Hospital, joined GenePod to discuss how those practicing on the front lines in the field of medical genetics should be preparing for gene therapy.
https://www.gimjournal.org/pb-assets/Health%20Advance/journals/gim/podcast/gim_may23-1683205360557.mp3Loading ... -
April 6, 2023
April 2023: Use of a PreEMPT model found that universal genetic screening for hypertrophic cardiomyopathy at birth would save lives but was unlikely to be cost-effective
Although hypertrophic cardiomyopathy, or HCM, may not be thought of as a common condition, it’s responsible for about 15 percent of sudden cardiac deaths in childhood, mostly starting at puberty. As a result, genetic variants linked to HCM are on the ACMG list of Secondary Findings that should be returned to families, and it's under strong consideration for inclusion in newborn screening. Yet much is still unknown about the impact of including HCM in screening programs. Ann Wu, MD, MPH, associate professor in the department of population medicine at Harvard Medical School and Harvard Pilgrim Healthcare Institute, and Kurt Christensen, PhD, assistant professor of population medicine at the Harvard Pilgrim Healthcare Institute and Harvard Medical School, joined GenePod to discuss their recent paper modeling the benefits, costs, and harms of including HCM in population-wide newborn screening.
https://www.gimjournal.org/pb-assets/Health%20Advance/journals/gim/podcast/GIM-April23-1680803698.mp3Loading ... -
March 7, 2023
March 2023: OXGR1 variants novel candidate disease gene for kidney stone disease
Kidney stone disease affects approximately one in 11 people over their lifetime and recent research has shown that rare genetic variants contribute to 15 percent cases. That fraction is even higher among children. A team of researchers at Boston Children’s Hospital had reason to believe there might be additional genetic links not yet identified. Amar Majmundar, MD, PhD, a pediatric nephrologist and researcher, joins GenePod to discuss the results of a recent study identifying the variant OXGR1 as a novel candidate disease gene for kidney stone disease, which he and his colleagues published in the journal Genetics in Medicine.
https://www.gimjournal.org/pb-assets/Health Advance/journals/gim/podcast/gim_march23_2-1678206143473.mp3Loading ...
