Jennifer M. Bain, MD, PhD

Jennifer M. Bain, MD, PhD is physician scientist specializing in pediatric neurology. She has a special interest in developmental disorders, including cerebral palsy. Dr. Bain is leading the cerebral palsy genetics study at the Weinberg Family Cerebral Palsy Center (WFCPC).

We caught up with her to find out more about her clinical and research work, and how genetics research in cerebral palsy may help development of treatments.

1. You are both a physician and scientist, how did you develop the interest for both?

As a clinician, I enjoy the experience of working with the family, not only with the child but also family. At college, I worked in a laboratory and enjoyed the process of asking and answering questions and thinking through what we can answer. What matters to the families is important to me, and I want to take the patient experience to the next level by asking and trying to answer those questions for myself and for the families.

2. How does being a clinician inform you of your research work?

The first few years of clinical practice is learning to listen to families, what I’ve learned over the years is to listen more. Every family has individual needs, but as I listen to them over years, I’m hearing more common themes and concerns, many of which we don’t have answers for yet in medicine and are not written in textbooks, and that’s what drives my research. When it comes to rare diseases, there are groups of questions that don’t have answers. My research is in rare diseases, mostly in genetic disorders that cause neurodevelopmental disorders that cause conditions such as cerebral palsy, autism, and intellectual disabilities. Many of the themes are common across all children, such as raising a happy and healthy child. These themes drive the basis of my research.

3. Cerebral palsy is commonly thought to be caused by birth-related factors, and not genetic factors. Tell us about your research on genetics and cerebral palsy at the WFCPC.

We are born with our genetic code telling us what we can become, but our environment can affect us. Sometimes, our environment can affect the way our brain and our body develops. What we’ve learnt is that there could be some changes in our genetic code that causes difficulties or changes in the way our brain and bodies develop, but also factors in the environment can potentially interact with our genes to potentially cause difficulties in the development of the brain. Traditionally we think of cerebral palsy as only an injury to the developing brain, and what we’ve learnt is there is a large percentage of individuals who actually have no history of brain injury or birth trauma, so we ask why would those individuals also have difficulty with their developing brain. We look into genetics to ask if there is something in the way the brain developed early on which is controlled by our genes that could have impacted or disrupted its typical development. Through research, we find out how our genetic makeup describes who we are, how it affects our development and how the development is affected by the environment.

4. When do you tell families to test for genetics?

I discuss genetics with all patients, even if I have a clear understanding of what could have caused the injury to the brain, such as prematurity or birth trauma. Very often, we want to understand if there was something which potentially contributed to that brain injury. While we are not there now to explain everything, we are learning more about what genes are important for early brain development. 

5. How does this help the development of treatments?

Not only is it important to understand why someone might have had a brain injury, but it also contributes to our better understanding on what happens during brain development, and what should happen during brain repair. This can potentially contribute to therapies. We can say, this is what is supposed to happen in the developing brain, but it's not happening in this child, then answer what we can do to help that process.

We are not at a point where we have a large percentage of cases with treatments, but with more genetics testing and research, this area is growing rapidly. If we identify cases with genetic causes, and a portion may have research and clinical trials, then in 10 years, we may have many more treatments for specific genetic causes or contributors.

Learn more about Dr. Jennifer Bain

Read this New York Times article on bespoke medicine featuring Dr. Bain.