Disease Prevalence Seminar: POLR3-related (or 4H) Leukodystrophy – Not So Rare?

We had the great honor and privilege of partnering with the prestigious Broad Institute on a Disease Prevalence study. The Broad used our gene mutations for 4H to demonstrate how the Broad’s prevalence calculator works. This is important work and an important partnership that we are eager to share.

Disease Prevalence Seminar presented October 2022 by Samantha Baxter, MS, CGC, Licensed Genetic Counselor, and Associate Director of Genetic and Genomic Data Sharing at the Broad Institute of MIT and Harvard. Samantha Baxter presents her work on a Frequency Calculator for autosomal recessive conditions use the 4H Leukodystrophy genes POLR3A and POLR3B as a case study. The Yaya Foundation for 4H Leukodystrophy hosted this seminar.

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