We’re thrilled to share a special episode drop from one of our podcast friends, Kira Dineen, and her multi award winning podcast, DNA Today! As a genetics podcast with over 12 years of groundbreaking episodes, DNA Today explores the latest in genetics and genomics through expert interviews and engaging discussions.

To celebrate the AVE alliance, this episode reflects on multiplexed assays for variant effects (MAVEs) and how they have the potential to solve the VUS problem. Joining Kira Dineen for this discussion are two founders of the AVE alliance: Dr. Doug Fowler and Dr. Lea Starita. To learn more about the AVE alliance and related efforts, please visit: https://www.varianteffect.org/about.

They discuss how MAVEs are revolutionizing the field of genetics, with real world applications in understanding genetic diseases. They also discuss ethics and practical considerations relating to genetic research.

As you’ve heard from our show, variants of uncertain significance pose a significant burden in the use of personal genomes in patient care. MAVEs allow the simultaneous testing of all possible variants in a disease gene and thus can be a powerful tool in our quest for providing answers for rare disease folks. Doing all of this is not an easy task given the thousands of disease genes in our genome. This is why they and others have founded this massive collaborative effort that we are also part of.

This podcast focuses on a realistic portrayal of the basic and translational research behind rare diseases with the hope that it will lead to better patient care, but this podcast is not meant to be medical advice.

“Views expressed in the content are solely that of the author(s) and do not necessarily reflect the views of the Atlas of Variant Effects Alliance.”