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.

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  • 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.

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  • February 3, 2023

    February 2023: Diagnosing genetic developmental and epileptic encephalopathies in Africa

    Epilepsy is one of the most common neurological diseases, with more than 50 million people affected worldwide and Sub-Saharan Africa carries the highest burden of the disease. However, most of the research on epilepsy, and the genetic variants that lead to developmental and epileptic encephalopathies, has been conducted in wealthier, resource-rich regions. So, a team of researchers recently conducted a study on children in South Africa whose phenotypic profile suggested there could be a genetic component; the results of that study, as well as the recommendations that arose from it, were recently published in the journal Genetics in Medicine. Jo Wilmshurst, MD, child neurologist at Red Cross War Memorial Children’s Hospital and a professor at the University of Cape Town, and Gemma Carvill, PhD, geneticist and assistant professor at Northwestern University in the department of neurology, joined GenePod to discuss the results of the study and the implications for care in a resource-limited setting.

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  • January 9, 2023

    January 2023: Awareness of genetic testing – results and analysis from the 2020 Health Information National Trends Survey

    The Health Information National Trends Survey, or HINTS, takes a nationally representative look at the public awareness and use of health-related information. The last time genetics questions were included in HINTS was in 2017, and at that point, just over half of Americans were aware of genetic testing. In a recent study published in the journal Genetics in Medicine, a team of researchers analyzed data from the 2020 HINTS survey, which once again included genetics-related questions. Leah Mechanic, MPH, PhD, program director at the National Cancer Institute, and Kathy Helzlsouer, MD, associate director in the epidemiology and genetics research program at the National Cancer Institute, join GenePod to discuss the results of the analysis.

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