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Daniela Del Gaudio is a Professor at the University of Chicago, specializing in the development and implementation of novel molecular technologies for the diagnosis of genetic disorders. Her laboratory offers molecular testing services for a variety of indications, including neurodevelopmental and congenital malformation disorders, hereditary forms of cancer, and endocrine disorders. Dr. Del Gaudio utilizes next-generation sequencing (NGS) techniques, including exome sequencing and algorithms to infer copy number variations from NGS data, which aid in the identification of disease-causing variants. In addition to implementing clinical tests, she has a strong interest in conducting genotype-phenotype correlation studies to better delineate the mutational phenotypic spectrum of genetic disorders and to understand the underlying molecular mechanisms of novel mutations identified through clinical testing. Over the past few years, her research contributions have significantly advanced the field of monogenic disorders, particularly in insulin secretion and monogenic diabetes, and congenital hyperinsulinism is a key focus of her work.
Department of Philosophy