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Gloria Haskell, Ph.D.

Contact information:
5079 Genetics Medicine Building,
Chapel Hill, NC 27599

My research background is in Neurobiology and I have used genetic, cellular, and molecular biology techniques to study aspects of normal development, as well as disease. During my doctoral training I was involved in two major projects aimed at better understanding genetic risk factors for schizophrenia, including retinoic acid signaling, and 22q11.2 deletion syndrome. I mapped CNS sites of retinoic acid signaling, and 22q11.2 gene expression, in the developing and adult brain. Using mice as a model system, I showed that adult brain cells respond to retinoic acid in vivo, including neural stem cells. Subsequently, I continued to evaluate the hypothesis that so-called “developmental” signaling molecules are re-activated both during adulthood, to mediate cellular plasticity, as well as during pathogenic states, such as cancer. As a postdoctoral research associate at Duke University, I investigated the role of Fgf and Wnt signaling during cerebellar development, as well as in medulloblastoma, a malignant cerebellar tumor that primarily affects children. Thus, I have broad training in pre-clinical neurogenetics.

More recently, I have been involved in the development and application of genetic tests for clinical purposes, such as diagnostics, treatment monitoring, and pharmacogenomics. I have significant industry experience signing out high-throughput sequencing results, and am currently serving as a molecular analyst for the NCGENES exome sequencing clinical trial. My research in the Berg lab is aimed at examining the diagnostic and research utility of whole exome sequencing in a clinically diverse set of patients. In those patients for whom we are not able to provide a diagnosis using current disease gene lists, I manually curate the exome data in search of novel causal variants. I am currently focused on analyzing exome data from cardio-genetic and neuro-genetic patients, and have identified candidate disease variants in a subset of severely affected cardiac patients. As the clinical use of genome-scale sequencing technologies escalates, adjudication of resulting variants will continue to be a central issue. Accordingly, my research efforts are focused on validating novel genomic variants using biological and bio-informatics-based approaches, in order to inform the development of analytical frameworks for variant interpretation.

 

More publications by Dr. Gloria Haskell