Contact Information:
ssacharow@med.miami.edu
5032 Mailman Center (MCCD)
Miami, FL 33136
ph: office: 305-243-7985
ph: appointment line:
305-243-6006

Stephanie J. Sacharow, M.D.

Dr. Sacharow is an Assistant Professor at the Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami Miller School of Medicine in Miami, Florida.  Dr. Sacharow is a board-certified Pediatrician and Clinical Geneticist.   Dr. Sacharow assists in diagnosis, management, and counseling for children and adults with a wide variety of inherited conditions. 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 a member of the Cleft Lip and Palate team.  Dr. Sacharow has special interest in autism, and is involved in the Miami Institute for Human Genomics (MIHG) Autism Study.

Research activities include molecular neurogenetics research, helping to test a candidate gene for X-linked Spinal Muscular Atrophy.  Also, Dr. Sacharow participated in clinical cytogenetic research studies to validate the microarray study as a diagnostic tool, and assess copy number variations by microarray (44k aCGH) study on patients with mental retardation and other features and/or autism.  She participated as a sub-investigator in a clinical research trial using enzyme replacement therapy with a patient with Pompe disease at Miami Children's Hospital.

Dr. Sacharow enjoys involvement with the community. She participates as a counselor for the Victor Project for Ashkenazi Genetic diseases. In addition, 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.

Links:  Miami Institute for Human Genomics

Selected Publications

1. Baumbach Reardon L,  Sacharow S, Ahearn ME (October 2008) X-Linked Infantile Spinal Muscular Atrophy
   in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright,
   University of Washington, Seattle, 1997-2008. Available at http://www.genetests.org.
2. Sacharow, S., Brosco, J. (2008) Autism Evidence-Based Practice Guidelines. American College of Physicians, Physician’s Information and Education Resource; http://pier.acponline.org
3. Fan, Y-S., Zhu, H., Jayakar, P., Barbouth, B., Sacharow, S. Elsas, L.J (2007).
   Detection of Pathogenic Gene Copy-Number Variations in Patients with Mental Retardation by
    Genome-wide Oligo Array CGH. Human Mutation, 28:11 1124-1132
4. Izenwasser, S., Stanley, JK, Cohn-Sacharow, SJ, & Mash, DC. (1999). Characterization of
   kappa-1 opioid receptor binding in human insular cortex. Life Sciences, 65(9), pp857-862