Jenny Golstein, Ph.D., C.G.C

Contact information:

Jenny Goldstein, PhD, CGC, is supervisor of the ClinGen Biocuration Core at UNC. 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. Her research interests included glycogen storage diseases and creatine deficiency syndromes. Jenny joined the Berg lab in September 2016. Since then, she has enjoyed working with biocurators and disease experts across the ClinGen consortium, to create a publically available resource on gene-disease clinical validity and the pathogenicity of genetic variants. Jenny co-chairs the ClinGen Biocurator working group which facilitates biocurator training. When not at work, Jenny tries to keep up with her two teenage boys while they scooter, mountain bike, and play soccer, and she loves trail running and hiking.

Selected publications

1. McGlaughon JL, Goldstein JL, Thaxton C, Hemphill S, Berg JS. The progression of the ClinGen gene clinical validity classification over time. Human Mutation (in press)

2. Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O’Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet. 100:895-906, 2017.

3. Goldstein J, Austin S, Kishnani P, Bali D. Phosphorylase kinase deficiency. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.

4. Bali DS, Goldstein JL, Fredrickson K, Austin S, Pendyal S, Rehder C, Kishnani PS. Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency. JIMD Rep. 37:63-72, 2017.

5. Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol Genet Metab. 111:309-13, 2014.

6. Goldstein JL, Dickerson G, Kishnani PS, Rehder C, Bali DS. Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results. Muscle and Nerve. 49:775-6, 2014.

7. El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab. 109:215-7, 2013.

8. Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet C Semin Med Genet. 160:40-9, 2012.

9. Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS. Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. Genet Med. 2:424-30, 2010.

10. Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, Peterson D, Millington DS, Kishnani PS, Bali DS. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve. 40(1):32-6, 2009.