September 1, 2022

September 2022: CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis

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Cystic fibrosis (CF) is thought to be far more common in individuals who self-identify as White than in other groups, and in part that’s because 90 percent of CF registry participants in the US, Canada, and the UK self-identify as White. But a team of researchers took a closer look at Asian CF patients in UK and Canadian registries, plus the registry at Stanford University. They disaggregated the data on South Asian from all other Asian populations, and they were able to both estimate population prevalence, as well as identify pathogenic variants linked to CF in Asian populations. On this month’s GenePod, two of the study’s authors, Zachary M. Sellers, MD, PhD, assistant professor of pediatrics in the division of pediatric gastroenterology, hepatology, and nutrition at Stanford University, and Sriram Vaidyanathan, PhD, assistant professor and principal investigator at Ohio State University and Nationwide Children's Hospital, discuss the results of their research.