Monica Penon Portmann, MD
Assistant Professor
Pediatrics
School of Medicine

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.

Show full bio (80 words) Hide full bio

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.

Awards

Show all (2) Hide

  • Charles Epstein Award Semifinalist, American Society of Human Genetics, 2020
  • Mead Johnson Morphogenesis Award, Western Society for Pediatric Research, 2020

Education & Training

Show all (5) Hide

  • Fellowship Medical Biochemical Genetics University of Washington 07/2023
  • Residency Medical Genetics and Genomics University of California San Francisco 07/2022
  • Postdoctoral Scholar Medical Genetics, Shieh Lab University of California San Francisco 07/2020
  • Residency Pediatrics University of Costa Rica 04/2018
  • MD Doctor in Medicine, Honors degree University of Costa Rica 02/2014

Interests

Show all (1) Hide

  • Tennis player in my free time. I also love to watch indie films and documentaries.

Publications (4)

Top publication keywords:
Genetic PrivacyDatabases, GeneticTravelInsurance CoverageInternetHumansHealth Services AccessibilityInformation DisseminationCaliforniaGenetic Services