Meet Professor Carl Ernst, a leading name in stem cell biology and genetic engineering, steering the Rare Neurodevelopmental Disorders Laboratory (RNDL) at The Neuro.
An Azrieli Centre for Autism Research (ACAR) member, Ernst's work is rooted in a passion for connecting with families. At the forefront of the RNDL, he drives research from modeling diseases to advancing potential therapeutics, with a focus on neurodevelopmental disorders.
We sat down with Professor Ernst to delve into his journey, research and what fuels his work.
Hello Carl, could you tell us more about your areas of focus?
My lab at The Neuro studies neurological disorders in children.
We use samples from the children who come to see us. These include blood and urine samples as well as clinical data such as MRIs and genetic data. We turn their cells into stem cells and stem cells into brain cells. Of course, they're not real brain cells; these are cells we use to try and understand what might be happening in children’s brains.
Some of the patients have genetic mutations we think are causing their developmental disorder, for example autism, neurodevelopmental delays and other neurological disorders of childhood. By studying brain-like cell context, we can understand what that gene mutation is doing and how it might be affecting the cells.
"The basis of my lab is to understand the biological basis of disorders and to consider things that are useful to families."
Could you talk about some of the impact your work has had?
It's been very rewarding to connect with families and learn about their children. Families like to know that someone's trying to understand their son or daughter or family member. Most of the family referrals come to us from other hospitals but some families find us online.
Consortiums like Q1K are part of the process too. Families are also referred to us by their own patient foundations. For example, we are currently sending a nurse to a family in Edmonton to collect a blood sample. The family was referred to us by the Schinzel-Giedion Syndrome Foundation.
I hope a future benefit is that by understanding the biological basis of disorders, which can often be genetic, we can start to think of what we might be able to do to modify it in a way that will be helpful to the child.
Is that what motivates you in your work?
I'm very grateful and privileged to be working with children. There's a very human connection: we're working with people who are all different and everybody's their own individual irrespective of what label is put on them.
We have been treating symptoms which are remarkable in their own way. For example, a child has seizures. We have anti-seizure medications, but that doesn't treat the biological basis of each patient.
The whole purpose of my lab is to understand the biological basis of disorders and to consider things we might be able to do that are useful to families. That's our ultimate goal.
"Families like to know someone's trying to understand their family member."
Stepping back a bit, what sparked your interest in this field?
I'd say a major motivation is exploring the brain. But it's also to try and take it from a health perspective. Families with a member who has a developmental disorder often find themselves time-poor. Often, the families are the main caregivers. It is very motivating to think about ways to modify the trajectory that a lot of these children are on.
Lastly, what brought you to The Neuro and ACAR?
The ongoing research here at The Neuro, the leadership, how open science is transforming radically our collective approach to brain science, the different centers - it's inspiring to see how well they work. It's such a functional place from a researcher’s standpoint. We’re all focused on the same goal: how can we help people? How can we treat patients and how can we make more discoveries?
ACAR provides this amazing platform for people who study autism to get together to work on all different aspects of autism. From the training platforms, the student scholarships, to the clinic - these are very novel and innovative. We're lucky to have it here and I'm totally honored to be a part of it.
More on ACAR Research Members
ACAR members are established researchers based at The Neuro or any McGill University institution or department whose research programs include funded projects with a significant focus on neurodevelopment or neurodevelopmental conditions.
"ACAR's strength comes from the diversity of clinical and research expertise," says Guy Rouleau, Director of The Neuro and of ACAR. "Members work together to advance our understanding of autism and improve outcomes for our patients and the broader autism community."
Discover more member stories here.
