Genetic Test to Diagnose Dilated Cardiomyopathy (DCM)

Brigham and Women's Hospital
posted on 04/04/2012

Technology: The invention is a genetic test using a blood/saliva sample that interrogates the Titin gene for the presence of 72 novel mutations. The inventors have found that approximately 25% of all DCM patients have a truncating mutation in Titin that result in a truncated protein that is the molecular basis of DCM. Also, these mutations are shown to be inherited and have a penetrance of 95%. Patients identified having this mutation can monitor themselves for symptoms of the disease and/or may change their lifestyle for disease prevention. Applications: - Diagnosis of DCM in approximately 25% idiopathic DCM cases - Detection of mutations in 50% of first degree relatives of DCM patients Advantages: - Identify high risk patients for the mutation - Improve treatment options - Simple test - Better than current tests on the market

Innovation Details

File Number: 21140 

Other Information: *Investigator(s)*
Daniel Christine E.; Herman Jonathan G.; Seidman Seidman

Amita Joshi, 617-954-9526

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February 11, 2009

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