Daniela Del Gaudio

Daniela Del Gaudio is a Professor at the University of Chicago in the Department of Human Genetics. She specializes in developing molecular diagnostic technologies for genetic disorders, including neurodevelopmental conditions, congenital malformations, hereditary cancers, and endocrine disorders. Her laboratory employs next-generation sequencing (NGS) and exome sequencing to identify disease-causing variants, particularly in monogenic diabetes and congenital hyperinsulinism.

• B.Sc., University of Naples ‘Federico II’, 1999
• Ph.D., University of Naples ‘Federico II’, 2004
• ABMGG Certification in Clinical Molecular Genetics, 2007

Her research focuses on genotype-phenotype correlation studies to expand the mutational spectrum of genetic diseases, molecular mechanisms of novel mutations, and discovery of new disease genes. She has significant contributions to understanding monogenic disorders affecting insulin secretion through clinical and research work.

The articles reflect her expertise in genetic disorders, particularly in endocrinology, hematology, and neurology, using NGS-based approaches. Key subfields include neonatal diabetes, Kabuki syndrome, telomere biology, hereditary cancer predisposition, and neurodevelopmental movement disorders.