Dr. Martinez-Agosto is Associate Professor with tenure in the Departments of Human Genetics, Division of Medical Genetics, Department of Pediatrics, and Psychiatry, Semel Institute for Neuroscience and Human Behavior; Co-Director, CAre and Research In NeuroGenetics (CARING) Program, and Co-Director, Cancer Predisposition Clinic. He is a Steering Committee Member of the California Center for Rare Diseases, a Principal Investigator in the Undiagnosed Diseases Network Site at UCLA, a site PI for the Rare Diseases Clinical Research Network, and Co-Director of the NIH-funded UCLA T32 Medical Genetics Training Program. Dr Martinez attended Yale University where he pursued his undergraduate, graduate and medical training, followed by Pediatrics and Medical Genetics residency training at UCLA. Dr Martinez has studied rare diseases for more than 20 years, and he and his colleagues have helped describe novel and established rare genetic diseases. His research interests are focused on dissecting the role of molecular pathways in regulating body growth through the study of human genetic disorders associated with intellectual disability, autism, overgrowth/undergrowth, and cancer predisposition. Dr Martinez-Agosto also participates in Pediatric Genetics efforts within the Los Angeles County Department of Public Health system, which provides genetic services to underserved medical populations. These genetics services and interventions aim to achieve early diagnosis and multi-disciplinary care that meets the individualized needs of underserved individuals with rare neurodevelopmental disorders and autism. His participation in multi-institutional collaborative studies at both national and international levels has led to many publications describing novel genetic disorders, their associated physical manifestations, and the impact of genetic testing interventions on care of individuals with neurogenetic disorders.