Investigating inherited human diseases to provide insight into molecular mechanisms of pathogenesis.

Dr. Hal Hoffman 

Harold M. HoffmanDr. Hal M. Hoffman is a professor of Pediatrics and Medicine and Chief of the Division of Allergy, Immunology and Rheumatology in the Department of Pediatrics at UC San Diego/Rady Children’s Hospital. His lab was the first to identify the genetic basis of four human diseases, including NLRP3, the gene responsible for cryopyrin associated periodic syndromes (CAPS).

About the Lab 

The Hoffman lab focuses on the genetics of rare human disorders. Using human genetics, molecular biology and translational studies, we search for new approaches to treat inherited diseases. Our studies of the NLRP3 inflammasome and innate immunity were instrumental in the development of the first effective therapies for cryopyrin associated periodic syndromes (CAPS) patients.

Support our work
Your gifts help us bridge the gap between discovery and patient care. To partner directly with us please contact: raidivision@ucsd.edu

 

Research Highlights 

• Discovering new disease mechanisms: recent findings published in the Journal of Clinical Investigation: Brydges SD, Broderick L, McGeough MD, Pena CA, Mueller JL, Hoffman, HM. Divergence of IL-1, IL-18 and cell death in NLRP3 inflammasomopathies.

• Linking patient care and basic science research: Broderick L, Gandhi C, Mueller, JL, Putnam CD, Shayan K, Peterson KS, Aceves SS, Sheets RM, Peterson BM, Newbury RO, Giclas PC, Hoffman HM, Bastian JF. Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis.