Stephanie Sacharow, MD
Director, Dr. Harvey Levy Program for Phenylketonuria and Related Conditions; Attending Physician, Division of Genetics and Genomics
Assistant Professor, Harvard Medical School
Image
Stephanie Sacharow, MD
Director, Dr. Harvey Levy Program for Phenylketonuria and Related Conditions; Attending Physician, Division of Genetics and Genomics
Assistant Professor, Harvard Medical School
Medical Services
Languages
English
Education
Medical School
University of Miami Miller School of Medicine
2002
Miami
FL
Residency
Jackson Memorial Hospital/University of Miami
2005
Miami
FL
Fellowship
Jackson Memorial Hospital/University of Miami
2007
Miami
FL
Certifications
American Board of Pediatrics (General)
American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)
American Board of Medical Genetics and Genomics (Clinical Genetics)
Professional History
Dr. Stephanie Sacharow is a medical biochemical geneticist experienced in the management of patients with metabolic disease including phenylketonuria. She is the medical director of the PAL clinic at Boston Children's Hospital and the director of the Dr. Harvey Levy Program for Phenylketonuria and Related Conditions. She studied Neuroscience at Vanderbilt University, then attended the University of Miami Miller School of Medicine and later joined their faculty. She is board-certified in Medical Genetics, Medical Biochemical Genetics and Pediatrics. She was involved with the implementation and execution of expanded newborn screening for metabolic disease in South Florida for 10 years and was recruited to Boston Children’s Hospital/Harvard Medical School in 2015.
Dr. Sacharow has published numerous articles and is co-investigator in multiple clinical trials for phenylketonuria and homocystinuria. She has expertise in the management of patients with pegvaliase (Palynziq), having been an investigator in the clinical trials, and provides medical management for a large number of adult patients with pegvaliase. Dr. Sacharow is co-author of management guidelines for pegvaliase and has been an invited speaker at national and international conferences to educate and share the PAL program's experiences and practice improvements.
Publications
Phenylketonuria in adults: we know plenty, but there is much more to learn. View Abstract
Lessons learned from 5 years of pegvaliase in US clinics: A case series. View Abstract
Patient voices on PKU care: Insights from focus groups with current and former patients. View Abstract
A 4-Month-Old With Jaundice, Lethargy, and Emesis. View Abstract
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening. View Abstract
Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening. View Abstract
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. View Abstract
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. View Abstract
The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening. View Abstract
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program. View Abstract
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population. View Abstract
Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study. View Abstract
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. View Abstract
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. View Abstract
Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox. View Abstract
Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. View Abstract
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. View Abstract
Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time. View Abstract
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. View Abstract
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. View Abstract
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics. View Abstract
Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. View Abstract
Nutrition status of adults with phenylketonuria treated with pegvaliase. View Abstract
Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation. View Abstract
First 1.5 years of pegvaliase clinic: Experiences and outcomes. View Abstract
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. View Abstract
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. View Abstract
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. View Abstract
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. View Abstract
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. View Abstract
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. View Abstract
Desmosterolosis presenting with multiple congenital anomalies. View Abstract
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. View Abstract
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. View Abstract
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. View Abstract
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. View Abstract
Clinical comparison of overlapping deletions of 19p13.3. View Abstract
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. View Abstract
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. View Abstract
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. View Abstract
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. View Abstract
A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia. View Abstract
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. View Abstract
A de novo 1.5?Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis. View Abstract
Variants in several genomic regions associated with asperger disorder. View Abstract
Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment. View Abstract
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. View Abstract
Safeguarding packaged drugs from bacteria and mold attack. View Abstract
Collapsible tubes for drugs and cosmetics. View Abstract