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“Novel Insights Into Lung Autoimmunity Through Research In Rare Mendelian Diseases” – A Synopsis

This is a video by Dr. Anthony Shum from an excellent series of talks by the Vera Moulton Wall Center for Pulmonary Vascular Disease (a brief summary of which is below): Summary Exome sequencing (similar to what 23andMe does) can provide insight into rare Mendelian diseases. Specifically, Dr. Shum has used this to analyze patients with autoimmune interstitial lung disease patients (typically patients who present at a young age, have pulmonary hemorrhage, arthritis, and presence of the autoantibodies ANCA and ANA) and has found that they all contain a mutation in the COPA gene, which was predicted to be damaging.

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