Dr. Stephanie Jill Sacharow, MD

Dr. Sacharow is an Assistant Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics. Dr. Sacharow is a board-certified Pediatrician, Clinical Geneticist, and Clinical Biochemical Geneticist. Dr. Sacharow assists in diagnosis, management, and counseling for children and adults with a wide variety of inherited conditions. Her expertise as a dysmorphologist has aided families that have been long seeking a definitive diagnosis for a family member. Dr. Sacharow enjoys working with children with developmental disabilities and their families. She is a provider for the regional newborn screening program, and cares for infants and children with inborn errors of metabolism. She is also the director of the Cleft Lip and Palate team, and a provider for the Cleft Lip and Palate Team in West Palm Beach. Dr. Sacharow has special interest in autism, and is involved in the Hussman Institute for Human Genomics (HIHG) Autism Study. Other past research activities include …molecular neurogenetics research, helping to test a candidate gene for X-linked Spinal Muscular Atrophy. Dr. Sacharow participated in clinical cytogenetic research studies to validate the microarray study as a diagnostic tool, and assess copy number variations by microarray study on patients with intellectual disability and other features and/or autism. She has continued to contribute to the medical literature on microarray findings by contributing to numerous case series first author publication. She performed clinical research to explore previously unrecognized conditions with cleft palate. Dr. Sacharow enjoys involvement with the community. She has been a volunteer for DNA Day at the Miami Science Museum, and has been a school volunteer to teach about Genetics and Medicine. She participates as a counselor for the Victor Project for Ashkenazi Genetic diseases. , Dr. Sacharow has worked to develop educational research projects; an out-reach program to teach genetics and teratogenicity to a special population of high school students who were pregnant or already mothers, and another educational project to help promote expanded newborn screening in Puerto Rico and the U.S. Virgin Islands.

• Boston Childrens Hospital

Boston Childrens Hospital

300 Longwood Ave

Boston

MA

02115

USA

+16173551900

• Pediatrics
• Medical Genetics

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