Dr. Mónica Penón Portmann is an Assistant Professor in the Department of Pediatrics at the University of Washington, where she specializes in Medical Biochemical Genetics. She earned her medical degree from the University of Costa Rica and completed her residency in Pediatrics at the National Children's Hospital in Costa Rica. Dr. Penón further advanced her expertise through a Medical Genetics fellowship at the University of California, San Francisco, followed by a fellowship in Medical Biochemical Genetics at the University of Washington.

A dedicated clinician and researcher, Dr. Penón leads patient care initiatives, clinical trials, and academic research focused on Medical Biochemical Genetics. She serves as the Associate Program Director for the Medical Biochemical Genetics Fellowship and is the Principal Investigator for four clinical trials. Additionally, she actively contributes to the Diversity, Equity, and Inclusion Committee for the Society for Inherited Metabolic Disorders (SIMD).

Dr. Penón is passionate about improving the diagnosis, surveillance, and management of patients with rare genetic disorders. She leverages bioinformatic genomic tools to enhance our understanding of conditions such as collagenopathies, particularly within underrepresented populations. Currently, she is establishing international collaborations to map the genetic epidemiology of rare diseases in Costa Rica. This includes partnerships with local universities and hospitals to implement ATP7B peptide testing for the early diagnosis of Wilson disease, as well as employing ortholog sequencing methods to identify missing variants in biochemically confirmed cases of inborn errors of metabolism. Her work aims to reduce diagnostic uncertainty, improve prognostication, and develop innovative management strategies for these complex disorders.