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

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

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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.

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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.

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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.

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

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We want to thank Dr. Glazer and Dr. Coyote-Maestas for their participation.

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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_⁠⁠

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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.

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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.

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Art created with Biorender

How can we use genomic technologies to tackle blood diseases?

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In this episode, we explain the role of genetic variants in blood disorders and how genomics approaches, such as gene editing can help cure these diseases.

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Genetic variation can cause hundreds of different blood disorders like sickle cell anemia, as well as impact your blood composition, potentially increasing your risk for many more.

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And new technologies such as base and prime editing may open doors for more potential research and therapies; the future looks bright and exciting!

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

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We want to thank Dr. Sankaran and Dr. Doench for their participation.

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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_⁠⁠

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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.

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Art created with Biorender

Who do you ask if you have a question about a gene?

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In this episode we dive into the teams and scientists that are building an encyclopedia of knowledge about your genes.

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There are billions of us on the planet - and most of us want to know about ourselves. We can look, and we can do experiments, but individually, we can’t possibly learn everything. However, standing on the shoulder of giants, we can reach for the encyclopedia stored on the top shelf of the library.

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If a family member is affected by a disease and suddenly you see yourself in a geneticist’s office, what roads allowed scientists to pinpoint a variant, to classify it as pathogenic, to know it could cause disease? .Who does this invisible work?

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Biocurators! They are scientists that work tirelessly to accumulate and standardize all human knowledge about our genes. They look at the outcome of all experiments, and parse out the observations of doctors, patients, and much more. All of this work is to conclusively allow clinical geneticists to pin down the gene-disease relationship.

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One major outcome of this is that we can now look at human variation from large sequencing efforts in the context of disease, with millions of variants of uncertain significance being discovered so far..So what will your genetic counselor look up when you come in with the result of a genetic test? Probably one of the standardized tools discussed in this episode.

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We want to thank Dr. Thaxton and Dr. Rehm for their participation.

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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_⁠

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Our first season ran 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. Stay tuned for the second season!.

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..

#vuspodcast #genetics #raredisease #varianteffect #atlasofvarianteffects #biocuration

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“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.”.

Full transcripts, show notes and references are available at:.

https://zenodo.org/communities/varianteffect/records?q=&l=list&p=1&s=10&sort=newest