Anthony Shum, MD
|School||UCSF School of Medicine|
|Address||513 Parnassus Ave|
San Francisco CA 94143
|University of Chicago||M.D.||Pritzker School of Medicine||2000|
|Arthritis Foundation||2015||Lee Howley Sr. Prize for Arthritis Scientific Research|
|Rheumatology Research Foundation||2015||Innovative Research Grant|
|UCSF||2015||Robert L. Kroc Chair in Rheumatic and Connective Tissue Diseases II|
|American Society for Clinical Investigation||2014||Young Physician-Scientist Award|
|American Thoracic Society||2007||American Thoracic Society Career Development Award|
|Will Rogers Institute||2005||Will Rogers Institute Fellowship|
I run a laboratory-based basic-translational research program that lies at the intersection of autoimmunity and pulmonary disease. My work is focused on the study of clinical disorders such as rheumatoid arthritis that have important disease manifestations in the lung. The goal of my research program to understand the basic mechanisms that control how the lung functions both as an important immune target in autoimmune disorders and as a critical factor in precipitating or propagating autoimmune inflammation.
My lab enrolls patients into our research program to perform next generation sequencing studies that are designed to uncover novel insights into the molecular pathogenesis of disease. We have developed a whole exome sequencing (WES) analysis pipeline to identify rare genetic variants that cosegregate with disease in Mendelian disorders of autoimmunity. Much of our work involves the study of immune mechanisms in animal models or cellular and molecular investigations that are designed to functionally validate candidate mutations discovered in our sequencing pipeline.
Do you have a patient you think might have a COPA mutation? Someone with a familial autoimmune or lung disorder? We are enrolling COPA syndrome patients and other families with autoimmune/lung disease for our studies. Please contact: firstname.lastname@example.org
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