Dr. Helen Hobbs is a preeminent molecular geneticist whose groundbreaking research has transformed our understanding of lipid metabolism and its critical role in cardiovascular and metabolic diseases. She currently serves as an Investigator of the Howard Hughes Medical Institute and Professor of Internal Medicine and Molecular Genetics at the University of Texas Southwestern Medical Center, where she directs the Eugene McDermott Center for Human Growth and Development. After earning her medical degree from Case Western Reserve University School of Medicine and completing clinical training at Columbia-Presbyterian Medical Center and Parkland Memorial Hospital, she heeded Donald Seldin's pivotal advice to pursue research in the Nobel Prize-winning laboratory of Michael S. Brown and Joseph L. Goldstein. Dr. Hobbs launched her independent research program at UT Southwestern in 1987, establishing herself as a transformative leader in medical genetics through her innovative approach to studying human metabolism.
Her seminal discovery that individuals with hypomorphic PCSK9 mutations exhibit dramatically lower LDL-cholesterol levels and near-complete protection against heart disease revolutionized cardiovascular medicine and directly catalyzed the development of PCSK9-inhibiting drugs that have benefitted millions of patients worldwide. In collaboration with Dr. Jonathan Cohen, she pioneered the strategic focus on rare genetic variants with substantial phenotypic effects, which led to the identification of the first genetic risk factor for fatty liver disease, a condition affecting millions that can progress to cirrhosis and liver cancer. Their laboratory demonstrated that mutations in PNPLA3 cause abnormal protein accumulation on lipid droplets, compromising triglyceride mobilization in liver cells and revealing the molecular basis for this prevalent metabolic disorder. This work established a powerful new methodology for identifying therapeutic targets through human genetics that has since become standard practice in the field.
Dr. Hobbs co-founded the Dallas Heart Study, a landmark multi-ethnic population-based research initiative that has generated foundational insights into the genetic architecture of metabolic diseases and continues to serve as an invaluable resource for researchers globally. Her visionary approach to studying lipid metabolism has reshaped scientific methodologies by demonstrating how rare mutations can profoundly influence common diseases, shifting the paradigm in therapeutic target identification. As a member of both the National Academy of Sciences and National Academy of Medicine, she has significantly influenced biomedical research policy while mentoring generations of physician-scientists. Her current research continues to focus on elucidating the functions of proteins involved in lipid trafficking and understanding the molecular mechanisms underlying genetic variations that confer susceptibility or resistance to fatty liver disease, maintaining her position at the forefront of translational genomic medicine.
