Dr. Jennifer Goldstein has been promoted to Associate Professor in the Department of Genetics, effective July 1, 2025.
Dr. Goldstein received her BS in Genetics from University of Aberdeen (Scotland) in May 1993, followed by a PhD in Medical Genetics from University of California, Berkeley in 1996. She continued her training as a postdoctoral fellow at Berkeley in 1997-1999 before pursuing her Masters in Genetic Counseling at Medical College of Virginia, attaining her degree in 2001. Dr. Goldstein served as a Genetic Counselor (July 2001-August 2003), a Research Assistant (May 2005-June 2008), and a Clinical Research Coordinator/Genetic Counselor (July 2008-August 2016) in the Division of Medical Genetics, Department of Pediatrics, Duke University Health System. Dr. Goldstein was appointed Research Assistant Professor in the Department of Genetics on September 1, 2016.
Dr. Goldstein’s research is focused on the development of methods and guidance for the accurate and consistent collection and interpretation of data on gene-disease relationships and variant classification for translation to patients and their families. She has been very effective in this area of research since joining the Department of Genetics. She has worked closely with the Clinical Genome Resource (ClinGen) program, funded by NIH to create a publicly available database of the clinical relevance of genes and variants. The majority of her research effort has been with ClinGen gene curation and variant curation expert panels, with a focus on inborn errors of metabolism and ocular disorders.