Yeung Porphyria Research Program
Email: akyeung@mgb.org
Overview
The Yeung Porphyria Research Program at Massachusetts General Hospital conducts clinical, translational, and laboratory-based research focused on porphyria, a group of rare disorders of heme biosynthesis. The program is led by Amy Yeung, MD, MPH, a pulmonary and critical care physician, Assistant Professor of Medicine at Harvard Medical School, Co-Director of the MGH Porphyria Center, and Principal Investigator at the MGH Cutaneous Biology Research Center.
Our research spans clinical trials, patient-reported outcomes, light dosimetry, biomarkers, genomics, and mechanistic studies of cutaneous phototoxicity. A major focus is protoporphyria, including erythropoietic protoporphyria and X-linked protoporphyria, which cause painful light sensitivity and can be associated with liver injury.
The program spans multiple clinical and research settings at MGH, including Pulmonary and Critical Care Medicine, the MGH Porphyria Center in Hematology (co-director Rebecca Karp Leaf, MD), and the MGH Cutaneous Biology Research Center. This structure supports a research program that connects patient care, clinical trials, quantitative outcomes, translational studies, and mechanistic investigation.
Research Projects
Clinical trials in protoporphyria
The program leads and supports interventional clinical trials for erythropoietic protoporphyria and X-linked protoporphyria and other porphyrias, including studies of emerging therapies and treatment outcomes.
Measurement of light sensitivity
The program develops quantitative approaches to measuring light sensitivity using wearable light dosimetry, symptom diaries, patient-reported outcomes, and biochemical biomarkers, both for patient self-monitoring and to serve as clinical trial endpoints.
Natural history, biomarkers, and disease burden
Research studies evaluate diagnostic delay, quality of life, reproductive health, liver involvement, biomarkers, and disease burden across multiple types of porphyria.
Mechanisms of cutaneous phototoxicity
At the MGH Cutaneous Biology Research Center, the laboratory studies how protoporphyrin accumulation and light exposure cause skin injury. These studies use patient-derived samples, cellular models, and functional assays to identify pathways that modify phototoxicity and may represent therapeutic targets.
Genetic and biological modifiers of disease severity
Dr. Yeung’s laboratory also studies genetic and biological modifiers of protoporphyrin IX (PPIX) accumulation and light sensitivity in protoporphyria. Her group uses genomic data, patient-derived samples, cellular models, and functional assays to understand why PPIX levels and the degree of light sensitivity vary among patients, even those with similar porphyria-causing variants.
MGH Porphyria Center
Amy Yeung, MD, MPH
Assistant Professor of Medicine, Harvard Medical School
Pulmonary and Critical Care Medicine, Massachusetts General Hospital
Co-Director, MGH Porphyria Center
Principal Investigator, MGH Cutaneous Biology Research Center
Email: akyeung@mgb.org
Dr. Yeung leads the Yeung Porphyria Research Program, which focuses on clinical trials, light sensitivity measurement, mechanisms of cutaneous phototoxicity in protoporphyria, and genetic modifiers of PPIX accumulation and light sensitivity.
Rebecca Karp Leaf, MD
Center for Hematology, Mass General Brigham Cancer Institute
Assistant Professor of Medicine, Harvard Medical School
Co-Director, MGH Porphyria Center
EmaiL: rkarp-leaf@mgh.harvard.edu
Dr. Karp Leaf is Co-Director of the MGH Porphyria Center and collaborates on clinical and translational porphyria research, including studies focused on diagnosis, clinical outcomes, and treatment of erythropoietic protoporphyria, X-linked protoporphyria, and other porphyrias.
Publications
Open Positions
The Yeung Porphyria Research Program welcomes inquiries from students, trainees, postdoctoral fellows, and research staff interested in porphyria research, clinical trials, light sensitivity, genomics, biomarkers, and mechanisms of phototoxicity. Please contact the program to inquire about current opportunities.