Have you ever wondered what it is like to be part of the AVE alliance working on solving the VUS problem?

In this episode, we interview scientists at the Mutational Scanning Symposium 2024 which took place at the Broad Institute. We chat about the future of this field, funny lab experiences, and how people got interested in variant interpretation.

The symposium united the leading experts of the field of variant genetics. Tackling the VUS problem requires a multidisciplinary approach - will you be the next one to make it happen?

We want to thank Dr. Buchser, Dr. Cagiada, Dr. Deyell, Dr. Kinney, Mr. Smith, and everybody else at MSS2024 for their participation.

This podcast is a series by the outreach group sponsored by the Atlas of Variant Effects Alliance. Made with love and care by Alex, Evelina, Kortni, Adrine and Moez. Music by Alan Diaz from @⁠⁠⁠_fotorecords_⁠⁠⁠

Our first season runs the gamut from discussing the origins of disease-causing variants to artificial intelligence in genetics to understanding what it takes clinically to reclassify a Variant of Uncertain Significance (VUS) to either disease-causing or benign.

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.

No partnership was established in this episode.

#vuspodcast #genetics #raredisease #varianteffect #atlasofvarianteffects

“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.”

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?

We want to thank Dr. Roth, Iris Cohn and Dr. Axford for their participation.

This podcast is a series by the outreach group sponsored by the Atlas of Variant Effects Alliance. Made with love and care by Alex, Evelina, Kortni, Adrine and Moez. Music by Alan Diaz from @⁠⁠_fotorecords_⁠⁠

Our first season runs the gamut from discussing the origins of disease-causing variants to artificial intelligence in genetics to understanding what it takes clinically to reclassify a Variant of Uncertain Significance (VUS) to either disease-causing or benign.

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.
*Disclaimer: brand names mentioned in this podcast are not a direct endorsement by SickKids or the Atlas of Variant Effects. No partnership was established in this episode.

#vuspodcast #genetics #raredisease #varianteffect #atlasofvarianteffects

“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.”

How do your genes impact your skin cancer risk?

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.

Full transcripts and references are available at: https://www.varianteffect.org/podcast

We want to thank Dr. Adams, Dr. Choi for the participation.

This podcast is a series by the outreach group sponsored by the Atlas of Variant Effects Alliance. Made with love and care by Alex, Evelina, Kortni, Adrine and Moez. Music by Alan Diaz from @⁠_fotorecords_⁠

Our first season runs the gamut from discussing the origins of disease-causing variants to artificial intelligence in genetics to understanding what it takes clinically to reclassify a Variant of Uncertain Significance (VUS) to either disease-causing or benign.

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.

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.

Full transcripts and references are available at: https://www.varianteffect.org/podcast

We want to thank Dr. Fields, Dr. Costain and Dr. Fowler for the participation.

This podcast is a series by the outreach group sponsored by the Atlas of Variant Effects Alliance. Made with love and care by Alex, Evelina, Kortni, Adrine and Moez. Music by Alan Diaz from @_fotorecords_

Our first season runs the gamut from discussing the origins of disease-causing variants to artificial intelligence in genetics to understanding what it takes clinically to reclassify a Variant of Uncertain Significance (VUS) to either disease-causing or benign.

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.