Monica Penon Portmann, MD

Dr. Mónica Penón Portmann is a medical and biochemical geneticist specializing in rare inherited metabolic disorders, including lysosomal, metal-deposition, and vitamin-dependent conditions. She provides comprehensive, compassionate care to children and families affected by complex genetic diseases.

Her research focuses on clinical trials in inborn errors of metabolism and the use of large genomic datasets to better understand rare disease biology. She is committed to advancing equity and inclusion in genetic medicine.

Dr. Penón earned her medical degree with honors from the University of Costa Rica. She completed residency training in pediatrics and medical genetics and genomics, as well as a fellowship in medical biochemical genetics at Seattle Children’s Hospital. She is fluent in English and Spanish.