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About the Institute

Profile of James Dowling

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Dr. James Dowling

By: Rubab Abid

Dr. James Dowling, MD, PhD

  • Senior Scientist, Genetics & Genome Biology
  • Staff Physician, Neurology
  • Associate Professor, Paediatrics and Molecular Genetics, University of Toronto

1. Where are you from?/Where did you study?
I’m originally from Philadelphia and I grew up on the east coast of the United States. I did my undergraduate degree at Yale University, my MD and PhD at the University of Chicago and then my residency in child neurology at the Children’s Hospital of Philadelphia. I completed my post-doctoral fellowship and my neuromuscular fellowship at the University of Michigan and then was junior faculty there before joining SickKids.

2. What are you researching right now?
I would describe my research program as translational research for childhood muscle diseases. Our overall goal is to develop new therapeutics for this currently untreatable group of conditions. I am most interested in muscle diseases that affect children starting at birth known as congenital myopathies. These are conditions that often have very devastating consequences for the children who have them.

We’ve taken a three-pronged approach to our research. The first step is determining the genetic definition of the disease. These are all genetic conditions, so we work on gene discovery to try and understand the causes for these diseases. The second step is taking that knowledge and trying to understand how and why the disease occurs based on the genetics. We then use that as a springboard for therapy development in animal models and eventually bring these therapeutics to the clinical setting.

3. Who is your all-time favourite scientist and why?
My all-time favourite scientist is my PhD mentor, Dr. Elaine Fuchs. I worked with Dr. Fuchs while doing my PhD at the University of Chicago. I look up to her as a mentor because of her unbelievable excitement and interest in science. I’ve never met anybody who is more interested and invested in understanding how the body works and how cells work. She combines that interest with amazing methodology and technical skills. She said to me very early in my training, Never be afraid to ask an important question even though you might worry that other people may be asking the same one – have the confidence that you’re going to do it better. I think that if you look at her science and her career, she’s asked some of the most important questions in stem cell biology and she’s answered them successfully because of the way she approaches each problem and how thorough she is in her investigations. Her work is inspirational, it’s intimidating, and it makes me want to aspire to something bigger.

4. What in your opinion is the most important scientific breakthrough and why?
Well, as a geneticist, I would have to say the understanding of the double helix and the discovery of Watson-Crick base pairing. Everything we are working on today stems from that discovery. I admire the way Watson and Crick took existing discoveries and put all the pieces together in order to develop the first understanding of the double helix.

5. What are your major interests outside the lab?
My interests have changed a bit since I was younger. I used to be an athlete, I ran track growing up and competed in college. After college, I started playing Ultimate Frisbee, and ended up playing on teams that went to the National Championships and played on a team that came one point away from winning the World Championships. Now, I like to spend my time reading and I watch a lot of sports.

My children are also a big interest; I have a nine-year-old and a 13-year-old and keeping up with them and seeing them grow takes up much of my time. They’re both incredibly fun, interesting kids. They like to play board games and they like to be intellectually challenged, so we have a lot of fun together. My family and I also love to travel. We’ve gone recently to Portugal and Argentina. We enjoy visiting museums and historic sites and exploring interesting, new things.

6. Why science?
This sounds cliché but from as early as I can remember I knew I wanted to be a scientist. There was something so exciting to me about trying to discover how things worked. I’m not necessarily mechanical, so I wasn’t really motivated by taking things apart, but how the body works has always fascinated me. I knew I wanted to be a scientist before I knew I wanted to be a doctor. I haven’t really questioned it too much because it’s been something that always seemed so natural to me. Since middle school, when we first started studying cells and learning science more in-depth, I’ve been drawn to it and thought it was really cool.

7. Why SickKids?
I was recently recruited here, so I have previously seen and experienced other health systems and I have never been to a place that has such an incredible breadth of talent on both the clinical side and research side that are integrated so seamlessly. I am surrounded by outstanding basic scientists and I am part of an amazing clinical department with expertise in all aspects of neurology. To be able to effortlessly integrate all of that, as a clinician scientist, it’s a dream.

If I was asked to build a place in my mind where I ideally wanted to work, it would be a place where I could set-up my lab amongst the best scientists in the world but then walk through a little bridge and be part of one of the best clinical departments in the world and have them be integrated. I feel so privileged to be working here! I have been here for three years now and my pre-conceived notions about SickKids have been validated even more than I would have expected. I feel like both my clinical work and my science have improved and really become more nuanced and sophisticated.

8. What is the most controversial question in your field right now?
I think there are a couple issues that are at the forefront right now. One is related to CRISPR: a technology with the potential to correct gene mutations on an individual basis. The question is how does that get developed in the era of tightening health care dollars and tightening research dollars? There are a lot of layers that go into deciding that you’re going to create this incredible expensive therapy for just one person or for a small fraction of people. On the other hand, there’s the question of how a therapy like this can be executed and dispensed to patients, how is it generated, how do you go through clinical trials? I think there are all these issues related to how exactly this incredibly exciting technology is going to be translated into patients. When you think about gene therapy, which has been in consideration for nearly 30 years, there are very few examples of it actually being successfully applied to patients.

9. What are you reading right now?
I’m currently reading Star Wars: Aftermath, which is actually not very well written, but it is filling in some of the gaps for me between the sixth and seventh movies. I also have a whole stack of books that I am hoping to tackle soon. At the top of my reading list is the new Patrick deWitt book Undermajordomo Minor. He’s the author of The Sisters Brothers, which I really liked, so I’m excited to read that one next. I’m excited about the new Orhan Pamuk book and David Mitchell’s book The Bone Clocks. He just wrote a little companion to that book called Slade House, which I’m planning to read as well.

10. If you could give one piece of advice to someone considering a research career, what would it be?
I think I would go back to what my mentor Dr. Fuchs told me when I was just starting out: Don’t be afraid to ask important questions, have the confidence that you’re going to answer them in the right way. Another thing I tell my trainees is that being an academic scientist really has to be a passion of yours. If you see it as just a day job then there is too much about this career that is frustrating and difficult, like continually applying for grants. If you don’t have the underlying desire for the field, it can easily turn into a long and difficult career. I think if you have the fire, then it doesn’t matter that you have to write ten grants a year because it will be worth it.

11. What does the SickKids' Peter Gilgan Centre for Research and Learning (PGCRL) mean to you?
I love it! My lab space is great, I love the interactive part. I was a little skeptical at first of this open lab concept because it seemed like a nice touch and it looks very beautiful, but I wondered if it would actually work. But, I would say, at least once a week, I walk down from my office to get a drink of water and I see somebody on another floor and think Oh yeah, I had a question for them!

In the age of email and electronic papers and texting, we are communicating less face-to-face but the value-added of actually sitting and talking to someone is still incredibly important. The PGCRL really motivates that interaction and makes it very easy to have those kinds of interactions. 

January 2016

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