Edith Friesema

Dr. Edith Friesema is an Assistant Professor in the Department of Internal Medicine at Erasmus MC, a leading academic medical center in the Netherlands. Her research is centered on inherited metabolic disorders, particularly porphyrias and thyroid hormone metabolism, with a strong emphasis on molecular mechanisms and clinical implications.

• Institution: Erasmus MC
• Department: Internal Medicine
• Position: Assistant Professor

Her research interests lie at the intersection of clinical medicine and molecular genetics. Dr. Friesema investigates the functional consequences of genetic variants in enzymes such as porphobilinogen deaminase (HMBS), contributing to the understanding of pathogenicity in acute intermittent porphyria. She also explores lipid metabolism in hypertension and evaluates therapeutic outcomes in rare diseases like erythropoietic protoporphyria. Her work combines biochemical analysis, clinical data, and genetic screening to improve diagnosis and treatment.

Analysis of her recent publications reveals a strong trend in rare metabolic diseases, functional genomics, and translational research. She frequently collaborates on large international studies, utilizing systematic variant testing and clinical cohort analysis. Her work is published in high-impact journals such as the American Journal of Human Genetics and JAMA Dermatology.

Dr. Friesema has delivered invited talks on metabolic and iron disorders, indicating recognition in her field. While no specific awards are listed, her research has been cited extensively and picked up by news outlets, reflecting its impact.

She is actively involved in research teams focusing on porphyria and metabolic diseases, collaborating with experts across Europe and North America. Her role in supervising and co-authoring doctoral theses suggests involvement in mentoring junior researchers, though formal students are not listed.