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Medical Director, Molecular Genetics and Genomics, ARUP Laboratories
Assistant Professor of Pathology, University of Utah School of Medicine
Understanding the molecular genetic characteristics of inherited vascular diseases and applications of new technologies including next generation sequencing to clinical molecular genetics testing.
Her research interest is to understand the molecular genetic characteristics of vascular malformations, particularly of Hereditary Hemorrhagic Telangiectasia (HHT). Her research aims to identify novel genes that can cause inherited vascular disorders, to determine the roles of regulatory regions of known HHT genes in disease pathogenesis, and to establish a genotype-phenotype correlation for HHT.
She is also interested in application of array technology and next generation sequencing to molecular diagnostics. Specifically, she has focused on detecting molecular genetic causes of mental retardation syndromes.
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