Breaking Boundaries in Genetics: Dr. Ashish Deshwar’s Quest to Revolutionize Rare Disease Research

Interview with Faculty Member Dr. Ashish Deshwar 

Dr. Ashish Deshwar’s path through science and medicine has taken him from small-town Saskatchewan to the cutting edge of rare disease research. As a clinician-scientist, assistant professor, and principal investigator at the University of Toronto, his work spans the molecular mechanisms of genetic diseases, innovative diagnostics, and mentoring the next generation of scientists. We sat down with Dr. Deshwar to discuss his journey, his research, and his insights for aspiring scientists.

Can you tell us a bit about your background and what inspired your career path?
I grew up in three places: Regina, Saskatchewan; Calgary, Alberta; and later Toronto, where I’ve spent most of my career. My journey into science started during my undergrad at the University of Calgary, where I studied zoology. I had an incredible professor, Peter Wise, whose lectures turned developmental biology into these amazing stories. That class lit a spark for me, and I started working in a lab, which confirmed that research was something I loved.

From there, I decided to pursue the MD/PhD program at the University of Toronto. My PhD was with Dr. Ian Scott at SickKids, studying pathways involved in cardiac progenitor specification using zebrafish models. After completing my MD/PhD, I entered the Medical Genetics and Genomics residency program, all while doing a postdoc in Dr. Jim Dowling’s lab, focusing on genetic liver diseases and RNA diagnostics.

A highlight was a visiting fellowship at Imperial College London, where I learned to model liver diseases using iPSCs. All of these experiences helped shape my current role as a clinician-scientist balancing research, teaching, and patient care.

What does your lab focus on?
My lab focuses on rare genetic diseases, and our work spans diagnostics, understanding molecular mechanisms, and exploring therapies. We’re particularly interested in how spontaneous genetic variations in rare diseases can inform broader health insights.

We use three systems: zebrafish, iPSCs, and patient-derived cells like fibroblasts or lymphoblasts. For example, one of our main projects is a proteomics pilot where we’re layering protein-level data with genomic and RNA sequencing. We’re studying how genetic variants affect protein pathways, especially in rare monogenic diseases. This kind of multi-omics approach could redefine how we diagnose and treat genetic disorders. Another major area of focus is modelling novel genetic disorders. We create zebrafish models to investigate how mutations influence disease progression and look for therapeutic targets. Finally, we’re deeply invested in understanding genetic liver diseases using zebrafish and iPSC models.

How did you decide to pursue this balance between clinical work and research?

For me, it was always about combining two things I loved: working with people and solving complex problems. The MD/PhD pathway felt like the perfect way to blend clinical care with research. I love the clinical side—helping patients and applying what I know—but science gives me a kind of excitement that nothing else can. I’ve always felt driven to uncover new knowledge, and research allows me to do that.

You’re both a clinician and a researcher. How do you manage work-life balance?
Organization is everything. I keep a detailed calendar for both work and personal life to make sure there are no surprises. I also set boundaries—I rarely work late into the evenings or on weekends, except in rare circumstances. That said, having a four-month-old daughter has added a new layer of complexity. It’s definitely a challenge, but sticking to my planning habits helps me stay balanced. I’ve always believed that your personal life shouldn’t take a backseat to your career. 

What role has mentorship played in your career, and how do you approach mentoring your own students?
Mentorship has been pivotal for me. I’ve been lucky to have incredible mentors like Dr. Ian Scott and Dr. Jim Dowling, who have supported me at every stage of my career. Their guidance has taught me the importance of being responsive and empowering mentees.

In my lab, I meet with all my trainees weekly and document our discussions so we stay aligned. I also make sure my students work on feasible projects that will result in meaningful outcomes. My goal is to ensure everyone finishes on time, publishes, and leaves with the skills they need for their next steps.

What motivates you to keep going on the hard days?

It’s the sense of discovery and knowing that my work is building toward something meaningful. Research isn’t always glamorous—it involves a lot of routine and troubleshooting—but the thought of finding answers keeps me going.

On a personal level, I’m also motivated by my long-term goals. I want to lead a lab where students thrive, contribute impactful research, and grow into independent scientists. That vision helps me push through challenges.

Failure is inevitable in science. How do you deal with setbacks?

My mantra is trust the process. If you’re consistent, thoughtful, and deliberate, things will eventually work out. Failure is tough—I’ve experienced my share, including changing my PhD project halfway through,but I’ve learned that sticking to a well-planned process makes all the difference.

It’s also important to maintain perspective. Surrounding yourself with people outside of your field helps you see that your self-worth isn’t tied to a single experiment or paper. Science is a long journey, and setbacks are just part of it.

How do you handle imposter syndrome, and do you think it’s something students should embrace or overcome?

I think a little bit of imposter syndrome is actually a good thing—it keeps you humble and pushes you to improve. That said, it’s important not to let it overwhelm you. Balance is key: be humble, but don’t let self-doubt hinder your confidence or progress.

What do you love most about the Department of Molecular Genetics, and what would you improve?

The community here is unmatched. MoGen is one of the few departments where there’s a real effort to create an engaging and supportive culture. The retreats and events bring people together in a way that’s genuinely enjoyable. As for improvements, I think we need to put more thought into student project design. Too often, students are given overly ambitious or poorly defined projects, which leads to unnecessary delays. We need to set students up for success by ensuring their projects are feasible from the start.

What advice would you give to aspiring scientists?
Talk to people. Learn from their experiences and ask about their decision-making processes. If you’re unsure about your path, think practically about what kind of lifestyle, work-life balance, and leadership opportunities you want.

But above all, focus on your passion. If you can’t imagine life without science, it’s probably the right path for you. And once you know what you want, don’t be afraid to say no to things that don’t align with your goals. Protect your time and focus on what matters most.

     "If you can’t live without science, then it’s the path you’re meant to take."

Author's note: I first met Ashish at this year's Power Hour event, where he was surrounded by a large crowd of students. It was clear that his humour, enthusiasm for science, and approachable nature had everyone captivated. Later, during the retreat, I had the chance to engage in some truly awesome discussions with him. Inspired by those conversations, I asked if he'd be willing to participate in an interview—and he kindly agreed. I truly enjoyed every minute of the time I spent interviewing him. He patiently answered every question, weaving in thoughtful stories and examples that made our conversation easy and impactful. One of the things I admire most about Ashish is his openness in giving positive feedback and encouragement. Also, he's genuinely one of the coolest and most down-to-earth scientists I've ever met. I left his office inspired, excited, and deeply impressed. I hope you enjoy reading this piece as much as I enjoyed writing it!