Rate My Professor Anthony Firulli

Anthony B. Firulli, PhD, is the Carleton Buehl McCulloch Professor of Pediatrics and Professor of Biochemistry, Molecular Biology & Pharmacology, Professor of Medical & Molecular Genetics, and Adjunct Professor of Anatomy, Cell Biology & Physiology at Indiana University School of Medicine. He joined the institution in July 2003 as an Associate Professor in the Department of Pediatrics at the Herman B. Wells Center for Pediatric Research. In July 2009, he was promoted to Professor in the Departments of Pediatrics, Medical and Molecular Genetics, Anatomy & Cell Biology/Biochemistry. In January 2014, he received the Carleton Buehl McCulloch Professor of Pediatrics title. Firulli serves as Director of the Program in Cardiac Developmental Biology and Director of the University of Ulster Masters Internship Program. His career has focused on elucidating the mechanisms of embryonic heart development, particularly the roles of basic helix-loop-helix (bHLH) transcription factors.

Firulli's research investigates the bHLH Hand/Twist-family proteins, demonstrating their broad dimerization characteristics and how phosphoregulation influences partner choice. His group has established that gene dosage of these factors defines a bHLH code that orchestrates cell specification, differentiation, and morphological patterning, contributing to human diseases such as congenital heart defects. Key findings include the discovery that Hand1 expression in the first pharyngeal arch is dispensable for craniofacial morphogenesis but dimer mutants disrupt FGF and SHH signaling, causing mid-face clefting. They identified Hand1 transcriptional enhancers recapitulating expression in the first pharyngeal arch, sympathetic nervous system, and left ventricle. HAND1 influences cardiac conduction system morphogenesis, with human SNPs in its enhancer linked to conduction defects, replicated in gene-edited mice. For HAND2, studies show it acts downstream of NOTCH signaling in the endocardium; its loss causes tricuspid atresia and impacts shear stress pathways. Single-cell analyses revealed novel HAND2-dependent endocardial enhancers. Firulli's lab continues to map regulatory enhancers and downstream targets of Hand1 and Hand2 to uncover gene regulatory networks in embryogenesis. Notable publications include "Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1" (Nature Genetics, 1998) and "The bHLH transcription factor Tcf21 is required for lineage-specific EMT of cardiac fibroblast progenitors" (Development, 2012). His work has secured major NIH funding, including a P01 renewal in 2023 for ventricular wall morphogenesis.