CAROLINA I. GALAZ-MONTOYA, MD
PhD Candidate, University of Arizona, Genetics Graduate Interdisciplinary Program
My current research focuses on understanding the genetic basis of neurodevelopmental disorders, particularly cerebral palsy (CP), through the integration of genomic and clinical data. I work with a cohort of families from Northwest Mexico, an understudied population in genetic research, to identify highly penetrant variants associated with CP and related neurological conditions. Using next-generation sequencing approaches, including whole exome sequencing, I investigate both cryptogenic cases and cases with known environmental risk factors to better understand the contribution of genetic susceptibility to disease development. My work also explores genotype-phenotype correlations and aims to determine whether specific genetic findings are associated with distinct clinical presentations or environmental exposures. In parallel, I participate in studies involving rare neurogenetic syndromes and movement disorders, contributing to variant interpretation, phenotype expansion, and international collaborative efforts through platforms such as GeneMatcher. Ultimately, my research seeks to improve molecular diagnosis, expand knowledge of neurodevelopmental disease mechanisms, and support more precise clinical care for affected individuals and families.
