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

.

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

.

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.

.

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?

.

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.

.

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.

.

We want to thank Dr. Thaxton and Dr. Rehm 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 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

.

“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