Hal Hoffman, MD

University of California at San Diego

Nominated by: Regeneron Pharmaceuticals Inc.

Dr. Hoffman's main research interests are genetics and inflammation. He has used a combination of positional cloning of human disease genes and mouse transgenic technology to identify the function of genes involved in human diseases. Previous and ongoing research concerns autoinflammatory disorders -- a group of inflammatory diseases associated with unregulated inflammation in the absence of infection or autoimmunity.

His work has focused on the study of one of these diseases, familial cold autoinflammatory syndrome, an inherited condition characterized by recurrent episodes of rash, fever, and joint pain following exposure to cold. Dr. Hoffman's lab identified the gene responsible for this disease and other related diseases collectively known as the cryopyrinopathies.

Dr. Hoffman took a keen interest in cryopyrin-associated periodic syndromes (CAPS), an inherited disease that affects about 300 people in the United States, and pursued this disease with great intensity. He reached out to patients with this disease residing in San Diego and the greater clinical community. He also attended patients' family reunions throughout the United States to discuss this disorder. Many of the people he met knew they had a problem but they and their local physicians were stumped as to the cause or treatment. In addition to sharing his knowledge at family reunions in Texas, Georgia, and California, he drew blood, lots of blood, from about 200 different patients.

By 1999, he was able to identify the chromosome on which the gene resided that contributed to CAPS and by 2001, the actual gene was discovered. When the regulatory nature of this gene became evident, this led to research on a potential treatment. That research culminated on Feb 27, 2008, when the FDA approved rilonacept (brand name ARCALYST) for the treatment of CAPS, a rare, inherited, inflammatory condition.

Dr. Hoffman's group also recently identified the gene responsible for a rare inherited diarrheal disease known as congenital tufting enteropathy, which has significantly improved our ability to diagnose this devastating disease leading to earlier diagnosis. Further study of this protein should shed light on the normal development of the cells of the gastrointestinal system as well as abnormal cell growth such as cancer and may lead to improved treatment for other diarrheal diseases.

Through his tireless efforts, Hal Hoffman has given the medical community and patients with CAPS a significant advancement in the diagnosis and treatment of this rare genetic disorder and has earned a place in the Rare Disease Hall of Fame.