Profiles

Esteban Dell’Angelica is Professor and Vice Chair in the Department of Human Genetics. He also serves as Director of Scientific Foundations of Medicine, a component of the HEALS medical curriculum in the David Geffen School of Medicine at UCLA. He got his PhD degree at the University of Buenos Aires (Argentina) for his isolation and biochemical characterization of a hitherto unknown calcium-binding protein from neutrophils. During his postdoctoral training in the laboratory of Juan S. Bonifacino, PhD, at the National Institutes of Health (Bethesda, Maryland), he identified and characterized several components of the molecular machinery for protein trafficking within the so-called ‘late secretory’ and ‘endocytic’ intracellular pathways and described the first example of human disease due to mutations in a known component of such molecular machinery (Hermansky-Pudlak syndrome type 2). As a faculty member at UCLA, he identified and characterized three multi-subunit protein complexes, named BLOC-1 through -3, which are required for the biogenesis of lysosome-related organelles such as melanosomes and platelet dense granules. He has been a member of a multidisciplinary team at UCLA that collaborates with other teams of the nation-wide Undiagnosed Diseases Network (UDN) to tackle very rare and poorly understood human diseases.