Mónica Penón Portmann, MD

Dr. Mónica Penón Portmann is a medical and biochemical geneticist who cares for patients with rare inherited disorders, with a focus on inborn errors of metabolism (genetic conditions affecting the body's ability to convert food into energy). She has expertise in diagnosing and managing a broad range of genetic and metabolic conditions, with special interests in lysosomal, metal-deposition and vitamin-dependent disorders. She is passionate about providing personalized, compassionate care and helping families navigate the challenges of rare genetic diseases.

Penón's research focuses on leading clinical trials in inborn errors of metabolism and leveraging large genomic datasets to advance understanding of rare genetic diseases. She is committed to promoting diversity, equity and inclusion in genetic medicine.

Penón earned her medical degree with honors from the University of Costa Rica. She completed a residency in pediatrics at the National Children's Hospital of Costa Rica and a residency in medical genetics and genomics at UCSF. She also completed a fellowship in medical biochemical genetics at Seattle Children's Hospital, an affiliate of the University of Washington.

Penón is a member of the Society for the Study of Inborn Errors of Metabolism, the Society for Inherited Metabolic Disorders and the American College of Medical Genetics and Genomics. She is fluent in English and Spanish and is proud to support families from diverse backgrounds.