Helen Hobbs is interested in how dysregulation of lipid metabolism contributes to human diseases. Hobbs and her team use human genetics to identify genetic differences causing disorders of lipid metabolism, then perform functional studies to define the underlying mechanisms. Their current focus is elucidating the functions of three proteins involved in lipid trafficking – ABCG5/ABCG8, ANGPTL3, and ANGPTL8 – and understanding the molecular basis of genetic variations in proteins conferring susceptibility (PNPLA3 and TM6SF2) and resistance (HSD17B13) to fatty liver disease.
HHMI investigators Karl Deisseroth and Helen Hobbs are among five scientists honored for transformative advances toward understanding living systems and extending human life. Brief summaries of the research carried out by the 12 patient-oriented researchers selected by HHMI in 2002