This neurogeneticist’s calling is to understand rare diseases that are unique to Quebec

A leading expert in rare diseases, Bernard Brais, MD, PhD, Co-director of the Rare Neurological Diseases Group, started out in history before diving into neurology. He specializes in neurogenetic disorders with founder effects in Quebec. In this Q&A Dr. Brais discusses his career path, how he chose his research field, and why he is sometimes the last in a long line of neurologists consulted by patients.

How did you choose your field?

Several factors converged for this to happen. When I started medical school in 1980, I met William Feindel, who was the director of The Neuro at the time and a history buff like me. He and I spent a lot of time going through the memorabilia and papers of Wilder Penfield, the first director of The Neuro, and I realized what an incredible institution it is.

My mother had a neurological condition at the time, and when I visited her at the hospital, I saw how the neurologists treated her case. At that moment I said to myself, “This is what I want to do. This profession really interests me.”

A third influence that steered me toward neurology was George Karpati, a neurologist who specialized in neuromuscular diseases and whom I met in my classes. Through him, I learned about the possibility of doing neuromuscular research at The Neuro.

My last defining encounter was with Charles Scriver, one of my professors at McGill, who was also one of the top geneticists in the world. He convinced me that I could make a career out of my interest in the history of neurological diseases in Quebec.

This was in the early 1980s, a time of big changes in genetics technology. We were at a point when studying the French-speaking Quebec population, because of its founder effect, could potentially lead to great advances in genetics.

My interests in history, neurology, The Neuro, and genetics ended up aligning to put me on my career path. I became a neurogeneticist and started working in “neurogenetics,” a discipline that has evolved so much and has even helped transformed modern neurology.

What is a typical work day like for you?

One constant is that no day is the same.

As a clinician researcher, I spend some days just in my basic research laboratory. I also have hybrid days when I spend time doing research and time in the clinic seeing patients. Then I have clinic days, when I mainly see patients who have already been seen by a long line of other neurologists.

We don’t know what these patients have, and I’m basically the last step in the diagnostic pathway to determine whether someone’s disease has a genetic cause. However, the focus of my clinical activities at The Neuro is helping patients who have a rare genetic pathology with a known or completely unknown cause.”

We are particularly well equipped to do this work at The Neuro. We have very advanced diagnostic platforms as well as access to colleagues with specialized expertise in all sorts of fields. It is a very resource-rich environment that makes us feel like we aren’t alone in helping our patients.

What research questions do you focus on?

Many questions fascinate me. In a global sense, I like the challenge of understanding how French-Canadian genetic heritage influences health. Why are some diseases genetically more common in Quebec, particularly in certain regions of the province, such as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)? And, above all, how can we treat these diseases?

Specifically, my research asks: what are the elements in genes that we know about or don’t know about that are responsible for specific clinical presentations? I often remind my students that there are diseases we still haven’t discovered. In some cases, we simply don’t know yet what the patient has. However, sometimes we do manage to find the treatment or the cause.

I take part in very diverse research activities that have a common thread, which is the idea that some rare diseases are more common in Quebec than in the rest of Canada and that these illnesses deserve our interest and investment.

Do you work with other researchers and clinicians at the neuro?

I work with basic researchers at The Neuro, often on an ad-hoc basis. We may come across a gene and learn that a leading expert in this area works at The Neuro. We’ll talk to that person to figure out what we can do together.

The same is true on the clinical side. Our colleagues are curious, which makes collaborating with them easy. The advantage of being at an institution like The Neuro is that it is a centre of excellence. We work with patients to find out what they have. Our obsession is always the same: understand to treat.