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About the Institute

Profile of Neal Sondheimer

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Dr. Neal Sondheimer

By: Megan Hutchinson

Dr. Neal Sondheimer, MD, PhD

  • Associate Scientist, Genetics & Genome Biology
  • Staff Physician, Clinical and Metabolic Genetics
  • Assistant Professor, Department of Paediatrics, University of Toronto

1. Where are you from?/Where did you study?
I’m originally from the United States. I was born in Arizona but I moved around a ton as a kid. When I was little my parents worked at SickKids and I lived in Canada for two years. I went to school in Boston and Chicago and did most of my medical training in Pennsylvania. My first faculty position was at the University of Pennsylvania, and I moved to Toronto in 2015.

2. What are you researching right now?
I’m working on approaches to understanding how changes in the maternally inherited mitochondrial DNA can cause common and rare disorders. The mitochondrial DNA controls energy generation inside the cell. Some rare diseases in children are caused by mutations in the mitochondria DNA, where we have a clear understanding of how the mutation causes disease but don’t really have any understanding of how to treat them. My lab is interested in mechanisms that might repair the mitochondria DNA in these children. I am also interested in understanding what changes in mitochondrial DNA do to healthy children who do not have an obvious mitochondrial disorder. I’ve looked at how mitochondria DNA mutations affect many rare and common diseases, as well as conditions like obesity. I also maintain an active interest in understanding how to approach mitochondrial DNA sequencing which is slightly different from nuclear DNA sequencing.

3. Who is your all-time favourite scientist and why?
Matt Meselson is my favourite scientist. He is best known for the Meselson-Stahl experiment which figured out the basics of how DNA is replicated. I got to meet Meselson when I was a graduate student. He was the graduate advisor for my graduate advisor, so he’s sort of like my academic grandfather. He was a very interesting guy. His research was elegant and important in establishing genetics as a field. He didn’t remain a traditional scientist. He became interested in human rights causes in his later years. I’ve always admired him because of his work in science, but also being a great person.

4. What in your opinion is the most important scientific breakthrough and why?
I would have to say that Jenner’s studies of cowpox were probably the discovery that is of greatest importance given its impact on survival at the time and its role in the development of modern vaccination strategies.

5. What are your major interests outside the lab?
My major interests outside the lab are taking care of and doing stuff with my two boys. I have a twelve and ten-year-old. In my spare time, I probably golf and play poker more than I should; those are my major vices outside the lab.

6. What inspires your work?
The main thing that inspires my work is honestly the concept of untreatable disorders and the families that have to live with them. When I was thinking about what I wanted to do clinically as a physician at medical school, I was drawn to genetics because most classical genetic disorders don’t have treatments. There’s a branch of genetics called metabolic or biochemical genetics and many of these disorders do have therapies that have been developed, some quite recently. I find the possibility of understanding rare diseases and establishing treatments from them to be really exciting and in the context of mitochondrial research, those are sort of the most stubborn diseases we have. 

We have understood the genetic basis of mitochondrial disease since the 80s but we have made no tangible progress towards treating them. We have developed supportive therapies, but these are not directed towards the cause of the disease. I hope that as we further our research, this won’t be the case in 50 years. I’m inspired to take part in that because I think this is an area where we can really do some good for patients and make interesting discoveries at the same time.  

7. Why SickKids?
There were several reasons for me to come here back in 2015. The structure of the research environment at SickKids is really terrific. The environment allows you to think creatively about what it is you want to do. Another thing that is very appealing is that there was a vision for genetics at this hospital which is different than the vision for genetics from where I came from. Genetics has always been too oriented towards being a diagnostic field, where we can tell you something terrible but there is not much we can do in terms of treatment. That is not the way we are supposed to operate; we are supposed to help people. I felt that there was leadership here that was more interested in genetics as a therapeutic medicine rather than a diagnostic discipline.

8. What is the most controversial question in your field right now?
The most controversial question in my field right now has to do with what’s commonly called the three-parent embryo. The three-parent-embryo is a way for women who have had a child with a mitochondrial disorder to have a child that is healthy. These families are obviously very frightened about having future children. It is now technically possible, though complicated, to create embryos through in vitro fertilization and then move the nucleus from the embryo into a recipient egg where the nucleus has been removed. Through this process you actually exchange the mother’s mitochondrial DNA with the donor egg’s mitochondrial DNA. This greatly reduces or eliminates any risk of passing on a mitochondrial disorder, while still producing a child that is genetically related to both parents - the only difference is that they don’t carry their mother’s mitochondrial DNA.

This is a very exciting technique but it is controversial because it comes close to crossing the line of being considered human cloning. We are tinkering with the process of reproduction to produce a heritable genetic change. Some people are very uncomfortable with this and it actually violates the law in some countries, including Canada at this time. We don’t know perfectly what is going to happen when we do this. It is possible that there’s an interaction between the mitochondrial and nuclear DNA that is important for the health of people down the road.

9. What are you reading right now?
I am reading a book called The Pesthouse by Jim Crace. It’s a dystopian novel about a future version of America and about people trying to cross the Mississippi river to get to Europe for a better life. I don’t know why but I have always been drawn to dystopian novels since I was a kid. It probably started with Margret Atwood. I really like them even though they can be pretty bleak.

10. If you could give one piece of advice to someone considering a research career, what would it be?
I would say that the most important thing is to study what you are interested in. If you're not, then science is terribly frustrating. A lot of methods we try don’t work and even the things that do work can take an awful long time to work. I find when I take on projects just because there is funding to do them but I wasn’t really interested in them, the experience has not gone well. But when I do things that may seem difficult, but that I am really interested in, I tend to do better. If you don’t feel invested in finding out the answer, it’s probably not a good question for you to try to answer.

November 2017

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