Stephanie Coury, MS, CGC, is an Adjunct Associate Professor in the School of Health and Rehabilitation Sciences and teaches in the Master of Science in Genetic Counseling program at MGH Institute of Health Professions.

Ms. Coury has worked as a clinical genetic counselor for over 12 years, working in pediatric, metabolic, adult, and prenatal genetic clinics. She currently works as a senior genetic counselor at Boston Children’s Hospital. In addition to her clinical roles, she also supervises and teaches genetic counseling students, and is co-director of the Harvard Medical School Genetics Training Program (HMSGTP) Advanced Human Genetics Course.

She is a team member of the Boston Children’s Hospital/ Dana Farber Cancer Institute Pediatric Cancer Risk Program. Ms. Coury is an Executive Committee Member of the Autism Spectrum Center at Boston Children’s Hospital. She is also a member of the New England Regional Genetics Group, and the New England Genetics Collaborative.

Ms. Coury has given numerous genetic lectures and presentations at national and international genetics meetings, as well as to high school, undergraduate, and post-graduate students.

  • BS, Biology, Providence College, Providence, RI
  • MS, Genetic Counseling, University of Pittsburgh, Pittsburgh, PA

Ms. Coury has published numerous papers - some titles are highlighted below. You can view a complete listing of Ms. Coury's publications in her CV. 

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. 

Myofibromatosis presenting as reticulated vascular changes and subcutaneous atrophy in patient with somatic mosaicism of PDGFRB mutation. 

Recognizing and Managing Children with a Pediatric Cancer Predisposition Syndrome: A Guide for the Pediatrician. 

In addition, Ms. Coury regularly presents at conferences and industry events. Please see her CV for a complete list of presentations.

An ultra-rare defect due to glycerol-3-phosphate dehydrogenase deficiency redirects hepatic lipid metabolism causing hypertriglyceridemia and massive hepatic steatosis at the International Congress of Inborn Errors of Metabolism (ICIEM).

Myo-inositol treatment reduces seizures and improves clinical outcomes in a new patient with the ultrarare phospholipase C beta 1 deficiency at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium.

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