New Science Podcast Focuses on Genetic Variants and Rare Diseases

‘We want to people to understand the magnitude of problem researchers are facing. And develop some level of empathy for those dealing with rare diseases.’ Alex Nguyen, Ph.D.


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EDITOR’S NOTE: Last May, Alex Nguyen, Ph.D., in the Department of Cell and Systems Biology at the University of Toronto, launched “Variants and Us,” a podcast focusing on rare disease and genetic variants. The podcast is affiliated with the Atlas for Variant Effects Alliance. New episodes are available every other month. Here, Dr. Nguyen comments on the creation, development, and future episodes of “Variants and Us.”

What led you to launch this podcast on variant effects?

About a year ago, when I first began thinking about doing a podcast, I was focused on getting the trainees in my lab some exposure. We thought it would be fun, and especially fun to involve others from Atlas of Variant Effects Alliance.

What is the objective of the podcast? Who is your target audience?

The podcast focuses on variants and rare diseases. Most people believe rare disease affects such a small percentage of people. But, in fact, 10 percent of the population worldwide have a rare disease. We want to people to understand the magnitude of problem researchers are facing. And develop some level of empathy for those dealing with rare diseases.

Moreover, I believe generally that science outreach is super important. Members of the AVE Alliance are uniquely positioned to discuss genetic variants accurately, as well as to explain the difficulty of this area of science. Regarding the target audience, this is an interesting issue. My original vision was to reach an informed, but not necessarily an expert group of people. That would include family and friends, who have a broad interest in science and how science affects society. However, since we launched “Variants and Us” in May, I have realized that many in this field of research, want to hear from experts.

Why did you select for the premiere episode Drs. Stan Fields and Doug Fowler, with the Department of Genomic Sciences at the University of Washington?

We thought would be important to highlight researchers who led the development of the field. Their work in this area represents the catalyst for mutational scanning. And, for me personally, Stan Fields is one of the scientists I most admire.

Without divulging too much regarding future episodes, what are some of the upcoming topics to be covered?

We have some upcoming themes our audience likely will be interested in. Those themes include: How genetic variants interact with the environment, Mitochondrial disorders, Variant effect predictors, and Clinical variant databases and classification. Among the leaders we will be interviewing are: Fritz Roth, University of Pittsburgh; Debbie Marks, Harvard Medical School; and Joe Marsh, University of Edinburgh.

Podcasts are not usually produced by one person. Who else is on the “Variants and Us” team?

My colleagues include: Adrine de Souza at University of Toronto, Moez Dawood at Baylor College of Medicine; Evelina Tronina at University of Toronto; and Kortni Kindree at University of Toronto.

More information: Listen to podcast episodes here. Learn more about the Atlas of Variant Effects Alliance here.