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Assistant Professor of Pediatrics
Medical College of Wisconsin
I do not have any relevant financial / non-financial relationships with any proprietary interests.
I have a broad background in clinical genetics and the care of patients with rare disorders through my training at Johns Hopkins University, which included a wide variety of experiences at the Johns Hopkins Hospital, the NIH, Children’s Nationwide hospital. I was trained to care for and diagnosing patients with hereditary connective tissue disorders including Marfan syndrome, Loeys-Dietz syndrome, and others. I spent 18 months of my clinical genetics fellowship contributing to the work of the Baylor-Hopkins Center for Mendelian Genomics. During this time I performed analysis of genomic data including exome and genome sequencing on hundreds of cases, including reanalyses of old unsolved cases, gene discovery within single families, and analysis of cohorts of patients with suspected mendelian disorders. Much of this work focused on cohorts of patients with connective tissue phenotypes, including aortopathy and connective tissue disease. I currently work as a clinical geneticist at the Medical College of Wisconsin and am involved in multiple endeavors which have leant me experience that will apply to this project. These include analysis of exome and genome sequencing for unsolved cases of rare mendelian disease, leading a group that focuses on clinical and research based variant analysis in collaboration with basic scientists, molecular geneticists and bioinformaticians at the genomic science and precision medicine center, leading a clinic that focuses on hereditary disorders of connective tissue, working to establish a multidisciplinary clinic with cardiology for the care of patients with genetic aortic and vascular disease.
