Variants and Us (VUS) Podcast
MAVE Rare Disease Podcast
Podcast series with a focus on the basic and translational science necessary to map the effect of variants in disease and rare disease.
This first season, we are going to cover topics such as clinical genetic screening and rare disease, testing variants in large-scale, disease risk, the intercept between variants and environmental contexts, computational predictors and so much more.
Episode 1 “Variant Effect What” with Drs Stan Fields, Doug Fowler and Greg Costain
All mutations compatible with life already exists, how do we interpret all of these variants? In this episode we explain the field of large-scale testing of variants and the Atlas of Variant Effects Alliance (AVE) alliance.
Transcript and show notes can be found here: https://zenodo.org/records/12823217
Episode 2 “Melanoma and Variant Effects: Beyond Sunscreen” with Drs Dave Adams and Jiyeon Choi
In this episode we explain variation impacting melanoma predisposition, variant association tests and large-scale variant testing that measures the impact of mutations of melanoma risk.
Transcript and show notes can be found here: https://zenodo.org/records/13151644
Episode 3 “Your genes on drugs: context matter” with Drs Frederick ‘Fritz’ Roth, Iris Cohn & Michelle Axford
How do your genes impact your drug response, and what about your metabolism? In this episode we explain genetic variation impacting drug response or pharmacogenomics and folate requirements in pregnancy. Variant effect maps are an amazing tool for understanding individual response to diseases and drugs, but normally they are made in one environment, how many environments are needed for us to implement individualized medicine?
Transcript and show notes can be found here: https://zenodo.org/records/13685455
“Live from the Mutational Scanning Symposium”
In this bonus episode, we interview scientists at the 7th Annual Mutational Scanning Symposium which took place May 22-24, 2024 at the Broad Institute. Here we chat about the future of this field, funny lab experiences, and how people got interested in variant interpretation. (We want to thank Dr. Buchser, Dr. Cagiada, Dr. Deyell, Dr. Kinney, Mr. Smith, and everybody else at MSS2024 for their participation.)
Listen on Spotify! https://tinyurl.com/VUSPod
Follow VUS Pod on Instagram! https://www.instagram.com/vuspodcast/
Podcast team: Alex Nguyen, Kortni Kindree, Moez Dawood, Adrine de Souza, Evelina Tronina
This effort is led by Alex Nguyen Ba, Experimental Technologies and Standards Workstream member, and Assistant Professor at the University of Toronto, Canada.