Dr. Anthony K Shum, MD, UCSF Assistant Professor of Medicine co-authored a 2015 study that revealed, for the first time, the underlying cause behind a mysterious and hereditary autoimmune disease characterized by childhood onset of severe lung disease and arthritis.
Dr. Shum was treating a patient in the ER at a California medical center for pulmonary hemorrhage when he realized the patient had a sibling and aunt who had also been treated for lung disease and arthritis. Following the trail he quickly began to identify at least nine more members of that family with similar disease, who provided DNA samples for testing.
Using those DNA samples and the latest genome sequencing techniques, a research team quickly zeroed in on the culprit. A mutation of the COPA gene which was crippling the COPA protein and preventing it from working properly. Further study revealed that the faulty protein trafficking, caused by the mutation, set off an autoimmune response in immune cells known as Th17, which is already identified as a culprit for other autoimmune disorders, such as rheumatoid arthritis.
The hope is that new research will bring about drug therapies to treat the condition, with broad applicability to other related diseases.
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