Information

Related Research Units

Genetics and Genomics Research

Research Overview

Dr. Sacharow has been part of research studies with a focus on autism, genomic disorders, inborn errors of metabolism and other rare diseases including X-linked spinal muscular atrophy. She is also interested in Jewish Genetic diseases, preconception screening, Genetics education, and the application of whole exome and whole genome sequencing. Dr. Sacharow is currently involved in clinical trials for Phenylketonuria (PKU) and Niemann Pick C disease.

Research Background

Dr. Sacharow attended Vanderbilt University and then the University of Miami Miller School of Medicine. She completed residencies in Pediatrics and Medical Genetics at Jackson Memorial Hospital, prior to joining the faculty at the University of Miami Miller School of Medicine (UMSM) in the Division of Clinical and Translational Genetics in 2007. Dr. Sacharow is board-certified in Medical Genetics, Medical Biochemical Genetics and Pediatrics. While at UMSM, she served as Program Director for the ABMG training programs in Medical Genetics, Clinical Biochemical Genetics and Clinical Molecular Genetics, and was course director and professor for the Masters in Genomic Medicine and co-taught the UMSM Genetics course. She was also medical director for the Cleft Lip and Palate clinic, and director for the Southeast Florida Newborn Screening Program for Metabolic disease. Dr. Sacharow has participated in multispecialty clinics for craniofacial disorders, muscular dystrophy, vascular anomalies, and inborn errors of metabolism.

Dr. Sacharow was recruited to Boston Children’s Hospital in 2015, and is a member of the Harvard Medical School faculty. She is co-Director of the Boston Children's Lysosomal Storage Disorder (BoLD) Program. Dr. Sacharow is Faculty Advisor for the Genetics Student Interest Group at Harvard Medical School. As an experienced dysmorphologist and medical biochemical geneticist, she sees patients with disabilities, congenital anomalies, genetic syndromes, and metabolic disease to provide expertise for diagnosis, genetic counseling and longitudinal management. She enjoys working with children with special needs and their families.

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

Publications

  1. Lessons learned from 5 years of pegvaliase in US clinics: A case series. Mol Genet Metab Rep. 2025 Mar; 42:101181. View Abstract
  2. Patient voices on PKU care: Insights from focus groups with current and former patients. Mol Genet Metab Rep. 2024 Dec; 41:101148. View Abstract
  3. A 4-Month-Old With Jaundice, Lethargy, and Emesis. Pediatrics. 2024 Oct 01; 154(4). View Abstract
  4. Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening. Am J Med Genet C Semin Med Genet. 2024 Nov; 196(2-3):e32110. View Abstract
  5. Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening. Am J Med Genet C Semin Med Genet. 2024 Nov; 196(2-3):e32111. View Abstract
  6. Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108541. View Abstract
  7. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218. View Abstract
  8. 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. Mol Genet Metab Rep. 2024 Sep; 40:101099. View Abstract
  9. Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program. Mol Genet Metab Rep. 2024 Jun; 39:101084. View Abstract
  10. Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population. Genet Med Open. 2024; 2:100841. View Abstract
  11. Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study. Mol Genet Metab Rep. 2023 Dec; 37:101015. View Abstract
  12. Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Mol Genet Metab. 2023 07; 139(3):107626. View Abstract
  13. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View Abstract
  14. Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox. Mol Genet Metab. 2023 05; 139(1):107579. View Abstract
  15. Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. Nat Metab. 2022 Sep; 4(9):1214. View Abstract
  16. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022 08 27; 145(8):2687-2703. View Abstract
  17. Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):104-106. View Abstract
  18. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):114-126. View Abstract
  19. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Am J Med Genet A. 2022 09; 188(9):2750-2759. View Abstract
  20. Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics. Mol Genet Metab Rep. 2021 Sep; 28:100790. View Abstract
  21. Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. Nat Metab. 2021 08; 3(8):1125-1132. View Abstract
  22. Nutrition status of adults with phenylketonuria treated with pegvaliase. Mol Genet Metab. 2021 08; 133(4):345-351. View Abstract
  23. Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation. Mol Genet Metab Rep. 2021 Mar; 26:100703. View Abstract
  24. First 1.5 years of pegvaliase clinic: Experiences and outcomes. Mol Genet Metab Rep. 2020 Sep; 24:100603. View Abstract
  25. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Am J Hum Genet. 2019 06 06; 104(6):1223-1232. View Abstract
  26. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2019 08; 21(8):1851-1867. View Abstract
  27. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Am J Med Genet A. 2018 11; 176(11):2259-2275. View Abstract
  28. Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer. 2018 05; 57(5):223-230. View Abstract
  29. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018 04; 39(4):461-470. View Abstract
  30. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View Abstract
  31. Desmosterolosis presenting with multiple congenital anomalies. Eur J Med Genet. 2018 Mar; 61(3):152-156. View Abstract
  32. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 04 06; 100(4):689. View Abstract
  33. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363. View Abstract
  34. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 05; 98(5):963-970. View Abstract
  35. Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Mol Cytogenet. 2013 Sep 20; 6(1):38. View Abstract
  36. Clinical comparison of overlapping deletions of 19p13.3. Am J Med Genet A. 2013 May; 161A(5):1110-6. View Abstract
  37. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Am J Med Genet A. 2013 Apr; 161A(4):822-8. View Abstract
  38. Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Mol Autism. 2012 Apr 02; 3:2. View Abstract
  39. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet A. 2012 Mar; 158A(3):547-52. View Abstract
  40. Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One. 2011; 6(10):e26049. View Abstract
  41. A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia. J Child Neurol. 2011 Aug; 26(8):1005-8. View Abstract
  42. Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. Am J Med Genet B Neuropsychiatr Genet. 2011 Jun; 156B(4):493-501. View Abstract
  43. A de novo 1.5?Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis. Autism Res. 2011 Jun; 4(3):221-7. View Abstract
  44. Variants in several genomic regions associated with asperger disorder. Autism Res. 2010 Dec; 3(6):303-10. View Abstract
  45. Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment. Genet Med. 2009 Mar; 11(3):169-75. View Abstract
  46. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat. 2007 Nov; 28(11):1124-32. View Abstract
  47. Safeguarding packaged drugs from bacteria and mold attack. Pharm Weekbl. 1969 Apr 25; 104(17):341-5. View Abstract
  48. Collapsible tubes for drugs and cosmetics. Pharm Weekbl. 1968 Nov 22; 103(47):1261-5. View Abstract

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