Our lab focuses on the translation of new genetic discoveries and innovative technological advancements into clinical tests that can be used to enhance therapeutics and patient treatment strategies, supporting the model of personalized medicine.
My recent research interests relate to the molecular genetics of monogenic disorders of insulin secretion, including monogenic forms of diabetes, congenital hyperinsulinism and familial forms of lipodystrophy. As an extension of this work, I have recently branched out in other endocrine disorders with a monogenic etiology, including obesity and disorders of sex development and differentiation. We are using an integrated approach using targeted next-generation sequencing panels, exome sequencing and microarray analyses to determine the molecular basis of these diseases, with the ultimate goal to develop better diagnostic tools and more effective personalized therapeutic approaches.
B.S. Biological Sciences, University of Naples, Italy, 1999
Ph.D. Clinical Molecular Biology, University of Naples Italy, 2004
ABMG board-certified Clinical Molecular Geneticist