Irving Institute Awardee Finds Success Identifying Rare Genetic Disorder

In 2022, Dr. Jennifer Bain received an Irving Institute for Clinical and Translational Research Translational Therapeutics Accelerator (TRx) Award to further her work identifying the rare neurodevelopmental disorder, “Bain Syndrome”, with the goal of moving closer to a treatment to address the root cause of symptoms. Dr. Bain, Assistant Professor of Neurology and Pediatrics at Columbia University Medical Center, discusses how the award and mentorship she received through the Irving Institute for Clinical and Translational Research helped jumpstart her early career at Columbia, and the project leading her to identify “Bain Syndrome.”

What is your area of research?

I am a child neurology physician scientist. My clinic is based on developmental disorders like autism and cerebral palsy with a focus on initial diagnosis and management. This means I take my patients along the diagnostic odyssey journey to understand why their child might be having certain developmental challenges. A lot of these end up being related to genetic disorders, which is how my research has now split off into the role of genetics in developmental disorders. I spend half my time in clinic and half working with families affected by developmental disorders that lead to neurodevelopmental issues.

How did your research lead you to identify “Bain Syndrome”?

One of the projects I have worked on since I was a trainee is on a specific genetic disorder, an HNRNPH2 related neurodevelopment syndrome, or “Bain Syndrome”, called as such because I wrote the first paper describing the clinical disorder. At the time, Wendy Chung was my mentor and we described 6 girls with a common gene which presented us with a clinical picture of developmental delays, intellectual disability, motor and language impairments, epilepsy, and autism. Since that time, I’ve met with the families and worked closely with advocacy groups to do a natural history study, which is when you closely follow a group of people without any intervention or any specific treatment. We started with 6 girls, and we now have over 100 identified around the world with the genetic disorder whose ages span from a few months old to women in their forties. In addition to our work understanding the natural crux of the disorder, through the Irving Institute we are doing more research studying the disorder and moving closer to potential therapeutics.

How has Irving Institute helped you in your career and research goals?

As a physician scientist who has a high clinical load, I didn’t have any wet lab funding when I started studying this disorder (“Bain Syndrome”). The Irving Institute made it possible to jumpstart this project, which I otherwise would have had no support for. In the clinical arm, the Irving Institute helped support the work I did doing clinical phenotyping and describing individuals with the genetic disorder. I also aligned with developmental neuroscientist Dr. Christopher Ricupero and the director of Columbia University’s Stem Cell Core Facility, Dr. Barabara Corneo, to begin working on modeling the disorder in stem cell models.

My research has also led to an interest in clinical trials in neurodevelopmental disorders. I am now the PI of two clinical trials involving Angelman syndrome, another rare genetic disorder causing a neurodevelopmental clinical picture. I need to utilize the Clinical Research Resource (CRR) to collect samples and process everything needed for both clinical trials. The CRR has been pivotal in allowing me to collect and prove biospecimens for HNRNPH2-rleated disorder in addition to participating in these sponsored projects.

What advice do you have for other investigators facing similar barriers?

Always keep trying. Through the Irving Institute, you can network with people in similar arenas who can advocate for and sponsor you for certain opportunities. This has been something I’ve gotten both from the awards and resources at the Irving Institute. Having those individuals who are further along at Columbia providing mentorship and sponsorship is invaluable.  My advice is if you have an idea, interest, or a passion, continue to forge forward to find the support you need to continue doing what you’re really interested in.