U of T Scientists Launch New Podcast on Genetic Variants and Rare Diseases

Speaking with leading experts on a range of topics, the team behind the Variants and Us (VUS) podcast seeks to develop empathy for those dealing with rare diseases, and highlight the problems researchers are facing.

Ten percent of the population worldwide have a rare disease — and there are more than 5,000 rare diseases out there. 

“In the context of human health, most of us have differences in our DNA sequences,” explains Alex N. Nguyen Ba, an assistant professor in UTM’s Department of Biology and the Department of Cell and Systems Biology at U of T. “And some of those differences can cause disease. We’re interested in identifying the ones that have clinical implications.” 

Enter the Variants and Us (VUS) Podcast, a new audio program headed by Nguyen Ba and team that’s increasing awareness of rare genetic diseases and variants, while also giving a voice to researchers and leaders in the field. Each episode is roughly 30-minutes long; they’re educational yet approachable, tailored to informed audiences who are interested in learning about science — and, the hosts point out with a smile, an effective way to explain their work to friends and families. 

The production team includes Dr. Adrine de Souza, a recent U of T graduate now working at SickKids Hospital; Moez Dawood, an MD/PhD student from Baylor College of Medicine; Kortni Kindree an MSc student at UTM; and Evelina Tronina, who will be starting her PhD at the University of Chicago in the fall. Both Kindree and Tronina work with Nguyen Ba at the annb lab.  

The VUS Podcast is embedded within the Seattle-based Atlas of Variant Effects (AVE) Alliance, co-founded in 2020 by former U of T professor Frederick (Fritz) Roth, a principal investigator in the Department of Molecular Genetics at the Donnelly Centre, along with Professors Doug Fowler and Lea Starita at the University of Washington, and others. 

“Thanks to the time and effort Adrine, Moez, Kortni, and Evelina have invested, our community is getting the chance to tell our story,” says Fowler, who was interviewed in the first episode. “Hopefully, the podcast will make people aware of the problem we are trying to solve and get them excited about our work.” 

The AVE Alliance is an international consortium of researchers, analysists, clinicians, patients, and funders who are working alongside major genomics and genetics initiatives and consortia to create a suite of comprehensive variant effect maps for important regions of human genomes. Nguyen Ba is part of an Alliance working group that’s establishing writing standards for communicating experimental techniques. 

The collaboration between the Alliance and VUS is invaluable.  

“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,” Nguyen Ba shared in a recent interview with the Brotman Bay Institute. “We're connected to the people who are driving the field and doing the work. And the episodes are written by people who are also working in the field — we can relate this shared experience and use it to frame the stories.” 

“We’re trying to show how studying genetic variation will reveal more about the human condition, by how we’re helping each other to understand the changes in our genetic code that help define us as a whole,” adds Dawood.  

 

 

In the first season, which launched on Spotify last May, the VUS team tackles topics on everything from the variants responsible for skin cancers to mitochondrial disorders, saturation genomic editing, computational predictors, and more. Interviews with experts are interspersed with helpful asides, where the hosts step out of the conversation to explain a term or unpack the science. 

“Advocating for this field can be difficult, but the podcast format is a really good way to communicate this type of research,” says Kindree. “Talking about the specific diseases these scientists are working on can help to promote this field in a clinical sense, and it can also reach the patients and families it impacts.” 

Tronina agrees. Together, she and Kindree are responsible for editing each episode, taking and shaping hours' worth of interview material. “Our main challenge is to condense everything and make it accessible. We need to fit the information in a relatively short time span and make it easy to understand.” 

Honing the various skills needed to produce each episode benefits the entire team. Nguyen Ba says he’s becoming a stronger writer and has learned to pitch and explain his own work in engaging ways. The trainees are gaining valuable experience; they’re developing important communication skills and are increasingly involved in the AVE Alliance, delving into the science as they research topics for the podcast.  

As an undergraduate student, Tronina attended the annual AVE-sponsored Mutational Scanning Symposium earlier this year, presenting a prize-winning poster and interviewing attendees for a special bonus episode of the show. 

“They’re becoming scientists — you can see it happening,” says Nguyen Ba. “It’s been great to watch.” 

“Working with Moez and Alex has really helped me to connect with the literature in a different way,” reflects de Souza.  

She produces the show and oversees digital marketing.  

“Sometimes I see a paper or hear a talk and I think, this person would be interesting, or that subject aligns with what we’re talking about,” she says. “And I think this is something that I will take and use in my career, in my scientific life — understanding how to connect through research. It’s connecting to actual people. It’s like, hey, you exist. And you made this. I want to talk to you. I want to understand what you do.” 

Season two of the VUS Podcast is already in the works. The team hopes to expand its guest roster and is looking at new opportunities for collaboration. 

“My original vision was to reach an informed, but not necessarily an expert, group of people,” Nguyen Ba says. “However, since we launched, I’ve realized that many in this field of research want to hear from experts.” 

He's also reaching out to those living with rare diseases and to professionals working on scientific outreach and for charities and foundations. 

When asked if they have any advice for researchers who may be considering adding their voice to the podcast space, Nguyen Ba says it’s essential to work with people you enjoy being with.  

“Start with a good team,” he says. “You're going to be spending a lot of time together and you’ll need to trust each other, and to know you have the same goals, the same ambitions for the project.” 

“It’s a lot of work,” adds de Souza, “but it’s fulfilling. And it’s important.” 

About the Atlas of Variant Effects (AVE) Alliance: The AVE Alliance is an international community of researchers, analysts, clinicians, patients, and funders. There are currently more than 500 members from 40 nations. 

Its office is located at the University of Washington Department of Genome Sciences and the Brotman Baty Institute (BBI) — an innovative hub for genomic research and precision medicine in Seattle, Washington. The BBI is a collaboration among Seattle’s three top research institutions: the University of Washington, Seattle Children’s Hospital, and Fred Hutchinson Cancer Center.