How can different molecular measurements enhance our understanding of membrane proteins and the genetic diseases caused by their dysfunction?

.

In this episode, we explain how membrane proteins relay environmental information to cells, focusing on channels that gate ions and molecules.

.

Membrane channels are integral transmembrane proteins that mediate selective, gated transport of ions and small molecules across cellular membranes, maintaining electrochemical gradients critical for cellular function.

.

Mutations in these channels are involved in hundreds of different diseases, from neurological disorders to cardiovascular dysfunctions, and MAVEs for these proteins can elucidate the biophysical mechanisms behind disease.

.

The goal is to develop functional understanding of the protein, and hopefully develop better diagnostics and therapies for these diseases. MAVEs are changing how we do this.

.

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

.

We want to thank Dr. Glazer and Dr. Coyote-Maestas 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, Katie, Jerome, Ziyi, Kortni, Adrine and Moez. Music by Alan Diaz from @⁠⁠_fotorecords_⁠⁠

.

Our second season advances our conversations in functional genomics and clinical genetics to untangle the science behind the future of human health, disease and MAVEs.

.

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.

.

Art created with Biorender