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MASONIC MEDICAL RESEARCH LABORATORY

MASONIC MEDICAL RESEARCH LABORATORY Patent applications
Patent application numberTitlePublished
20110053165CACNB2 NUCLEIC ACID MUTATIONS AS INDICATORS OF SHORTER THAN NORMAL QT INTERVAL AND ST SEGMENT ELEVATION ASSOCIATED WITH SUDDEN CARDIAC DEATH - Previously unknown mutations of the CACNA1C and CACNB2b genes are disclosed which are involved in ion channel disruptions associated with shorter than normal QT interval and ST segment elevation syndrome. These mutations are utilized to diagnose and screen for shorter than normal QT interval and ST segment elevation syndrome, thus providing modalities for diagnosing syncope and/or sudden cardiac death and/or predicting susceptibility to syncope and/or sudden cardiac death. Nucleic acid probes are provided which selectively hybridize to the mutant nucleic acids described herein. Antibodies are provided which selectively bind to the mutant polypeptides described herein. The mutations described herein are also utilized to screen for compounds useful in treating the symptoms manifest by such mutations.03-03-2011
20090317905MUTATIONS IN ION CHANNEL PROTEINS ASSOCIATED WITH SUDDEN CARDIAC DEATH - Previously unknown mutations of the KCNH2, SCN5A and KCNQ1 genes are disclosed which are involved in ion channel disruptions associated with short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease. These mutations are utilized to diagnose and screen for short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease, thus providing modalities for diagnosing sudden cardiac death and/or predicting susceptibility to sudden cardiac death. Nucleic acid probes are provided which selectively hybridize to the mutant nucleic acids described herein. Antibodies are provided which selectively bind to the mutant proteins described herein. The mutations described herein are also utilized to screen for compounds useful in treating the symptoms manifest by such mutations.12-24-2009