Amanda Moccia

Amanda Moccia

Mentor: Bielas
Human Genetics

Areas of Interest

Identifying novel genetic etiologies of human disease allows an opportunity to uncover the underlying biology and mechanisms of development. I am building on human genetic discoveries to investigate defects in neurogenesis associated with primary microcephaly using mammalian models of neurodevelopment.  In addition, I am identifying and functionally validating the pathogenic consequences of variants found in non-coding regulatory elements as the genetic basis for CHARGE syndrome.