Endocrinology fellow receives prestigious award to pursue IDD research

Sep. 10, 2021
Head and shoulders picuter of Carlos Diaz-Balzac he has brown hair that is combed a short beard and is smiling. He is wearing a striped blue and white buttoned-up shirt with a tie.

Carlos Diaz-Balzac, M.D., Ph.D., an endocrinology fellow, was recently awarded The Career Award for Medical Scientists (CAMS) from the Burroughs Wellcome Fund for his project titled Transcriptional regulation of neural circuit formation in intellectual disabilities. Diaz-Balzac was one of 12 investigators nationwide to receive the CAMS in 2021 that carries a $700,000, five-year award. It focuses on the transition of physician-scientists from postdocs into an independent research position.

“This award gives me the ability to explore a specific area of research I am interested in. It also gives me the tools and support to establish a solid foundation for my own research while I transition from postdoc to faculty,” said Diaz-Balzac.

Diaz-Balzac’s research will focus on intellectual and developmental disabilities that arise from the mutation of the alr-1/ARX gene. In the lab of Douglas Portman, Ph.D., professor of Biomedical Genetics at the University of Rochester and member of the Del Monte Institute for Neuroscience, he will use C. elegans – a microscopic roundworm used to understand the nervous system – to investigate the different classes of alr-1/ARX mutations and how these cause specific syndromes like epilepsy. By disrupting specific subsets of alr-1/ARX-regulated gene networks Diaz-Balzac is aiming to understand how the gene affects the function of neural circuits in the brain.

“These findings will establish the groundwork for the translation of my basic science results to vertebrates, and then eventually to the bedside for clinical application,” said Diaz-Balzac. “The more we understand about how gene mutations impact brain development, the better suited we will be able to offer interventions even before symptoms arise.”

Diaz-Balzac joined Portman’s lab in 2019 after completing his residency at the Medical Center. He received his M.D./Ph.D. from the Albert Einstein College of Medicine in 2017. He is originally from San Juan, Puerto Rico.