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Section Chief , Genetics
Medical College Wisconsin
I do not have any relevant financial / non-financial relationships with any proprietary interests.
A. Personal Statement
I have a keen interest in connective tissue biology and in understanding the underlying mechanisms of disease in patients with Hereditary Connective Tissue Disorders. The identification of this small cohort of patients with a unique connective tissue phenotype on the background of autosomal recessive polycystic kidney disease piqued my scientific interest in the biology of the vascular disease and the overlap with connective tissue homeostasis in this rare disorder. I have knowledge of both connective tissue biological pathways and the ability to leverage my understanding of primary molecular biology and gene expression in an effort to help us better understand this unique phenomenon.
I have primary research experience in both Sanger and NextGen sequencing including experience with bioinformatic tools to enable variant identification and clarification. I have worked within the broad field of connective tissue disorders for the past 18 years and am intimately familiar with the subtle clinical nuances of these disorders.
