Cole Deisseroth, a medical student in the Medical Scientist Training Program at Baylor College of Medicine, was awarded the 2021 Child Neurology Foundation Neurodevelopmental Disabilities Summer Research Scholarship for his research on EBF3-related disorders, performed under the guidance of a physician-scientist, Dr. Hsiao Tuan Chao, assistant professor at Baylor College of Medicine, investigator at the Jan and Dan Duncan Neurological Research Institute, and child neurologist at Texas Children’s Hospital.
Deisseroth was awarded this scholarship for a cross-sectional study of a recently recognized neurological disorder, Early B-cell Factor 3 (EBF3) related Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS). He, along with other members of the Chao lab, identified a set of highly diagnostic phenotypic features, and developed diagnostic and outcome assessment scales to identify an individual’s risk for pathogenic EBF3 variants, facilitate targeted EBF3 testing, and determine the genotypic impact on developmental outcomes. They identified the severity of developmental delays correlated with EBF3 variant type and location, opening the doors to further mechanistic investigation.
The scholarship was started in 2016 by the Child Neurology Foundation, a network of patients and caregivers, volunteers and advocates, researchers and clinicians who are committed to helping one another and those navigating the journey of disease diagnosis, management, and care. This prestigious scholarship is awarded to one person each year for a clinical research project focused on neurodevelopmental disabilities. It is available to both US and Canadian medical students and supports clinical research in the field of neurodevelopmental disabilities in children, conducted under the direction of a child neurology or neurodevelopmental disorders subspecialist.