Keywords: Biocuration, Data Science, Bioinformatics, Inborn Errors of Metabolism, Glycogen Storage Disease, Lysosomal Storage Disease, Pompe disease, Cerebral Creatine Deficiency Syndromes, Variant Classification, Retinopathy
Jenny Goldstein, PhD, CGC, is a senior biocurator in the ClinGen Biocuration Core at UNC-Chapel Hill. Originally from Scotland, Jenny started her career in human genetics at the University of Aberdeen where she received her PhD for studies on the molecular genetics of retinitis pigmentosa. She moved to the University of California-Berkeley, to carry out post-doctoral studies on motor proteins in the vertebrate retina. Jenny went on to complete a master’s program in Genetic Counseling at Virginia Commonwealth University, and worked as a pediatric genetic counselor and clinical research coordinator at Duke University Medical Center for 15 years where her research interests included glycogen storage diseases and creatine deficiency syndromes. Jenny joined the Berg lab in the Department of Genetics at UNC-Chapel Hill in September 2016 to work with the Clinical Genome Resource (ClinGen). ClinGen is an NIH-funded effort dedicated to building a publicly available central resource that defines the clinical relevance of genes and variants use in precision medicine and research. Jenny has several roles within ClinGen including chair of the Biocurator working group, which supports biocurator training and education, curator in several gene and variant curation expert panels in the Inborn Errors of Metabolism and Ocular clinical domains, and member of the Variant Curation Working Group core. Jenny’s interests include the development of methods and guidance for the accurate, efficient, and consistent collection and interpretation of data on gene-disease relationships and variant classification. Jenny also enjoys teaching and has worked with undergraduate students on annotation of data to facilitate classification of variants in the GAA gene for Pompe disease, as well as teaching students about variant interpretation and clinical genetics.
- Bias 101