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Deborah Marsden, MD

Healthcare Professional
Attending Physician
Division of Genetics & Genomics
Boston Children's Hospital
300 Longwood Avenue, Hunnewell, 5th Floor
Boston, Massachusetts, United States

Deborah Marsden is an Attending Physician in the Division of Genetics and Genomics at Boston Children’s Hospital. She is a graduate of the University of New South Wales in Sydney, Australia, where she completed early residency in general medicine and then started a pediatric residency. Dr. Deborah completed further pediatric training in London, UK and at the University of California at San Diego, where she also completed a fellowship in Clinical Biochemical Genetics. After some time on the faculty there, she moved to Boston, Massachusetts. There she was the Medical Director at the New England Newborn Screening Program, working on the introduction of expanded screening for over 30 inborn errors of metabolism. Deborah Marsden then became Director of the Metabolism Program at Children’s Hospital Boston and Director of the Metabolic Lab. She has participated in clinical translational research in various rare genetic and lysosomal storage disorders including Mucopolysaccharidoses (MPS).

Deborah Marsden was recruited in 2006 by Genzyme to be the Director of Global Medical Affairs for Myozyme and later to Amicus Therapeutics as Senior Director of Medical Affairs for the chaperone therapy programs.  At Pfizer, she was a Senior Director in the Orphan and Genetic Diseases Research Unit, responsible for Clinical Development strategy from early discovery through phase II proof-of-concept studies for internal programs and new partnerships. Currently, Dr. Deborah serves as Global Medical Affairs Lead at Ultragenyx Pharmaceuticals, and Senior Medical Advisor at Farmington Pharma. 


Representative Publications:

Corrigendum to “The Long-Term Safety and Efficacy of Vestronidase Alfa, rhGUS Enzyme Replacement Therapy, in Subjects With Mucopolysaccharidosis VII”

Retrospective Chart Review of Urinary Glycosaminoglycan Excretion and Long-Term Clinical Outcomes of Enzyme Replacement Therapy in Patients With Mucopolysaccharidoses

Urinary Glycosaminoglycans As a Potential Biomarker for Evaluating Treatment Efficacy in Subjects With Mucopolysaccharidoses