Stephanie Jill Sacharow MD
Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics
Assistant Professor, Genetics and Genomics, Boston Childrens Hospital, Harvard Medical School
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300 Longwood AveBoston, MA 02115
Phone+1 617-355-6346
Fax+1 617-730-4784
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Education & Training
University of Miami/Jackson Health SystemResidency, Medical Genetics and Genomics, 2005 - 2007- University of Miami/Jackson Health SystemResidency, Pediatrics, 2002 - 2005
University of Miami Leonard M. Miller School of MedicineClass of 2002
Certifications & Licensure
MA State Medical License 2015 - 2026
FL State Medical License 2006 - 2016
American Board of Medical Genetics and Genomics Medical Biochemical Genetics
American Board of Pediatrics Pediatrics- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach.Alvaro Hermida Ameijeiras, Erika Vucko, Cary O Harding, Melissa Lah, Ania Carolina Muntau
Molecular Genetics and Metabolism. 2026-02-08 - 2 citationsEffect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.Francjan van Spronsen, Heidi Peters, Lali Margvelashvili, Dodo Agladze, Ida Vanessa D Schwartz
Genetics in Medicine. 2026-01-12 - Infantile Developmental Regression, Asymptomatic Abnormal Newborn Screen, and a Shared Diagnosis.Michelle Joy Wang, Tyler Lueck, Allissia Gilmartin, Stephanie Sacharow, Megha Gupta
Neoreviews. 2025-07-01
Press Mentions
Phenylketonuria: Giving Treatment a Second ChanceJanuary 24th, 2025- Early Stage Investigator Spotlight: Stephanie Sacharow Helps Patients with Phenylketonuria Overcome Barriers to TreatmentOctober 25th, 2022
- FDA Extends Approval of PKU Drug to Include AdolescentsMarch 7th, 2026
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