Deciphering Novel Disease Mechanism in Cardiomyopathy by Transcriptome Sequencing

Abstract

Dr Akihiro Nomura, Assistant Professor at the Innovative Clinical Research Center, Kanazawa University in Japan, believes the current methods of genetic screening are inadequate. Nomura and his team are looking to gain both a better understand the genetics of the disease and, in doing so, develop a more effective screening method. Nomura explains the complex picture of the genetic nature of HCM. "Previous studies searching for causative variants in Mendelian diseases mainly focused on variants in the protein-coding regions of the DNA," he says. "By integrating high-throughput DNA sequencing with transcriptomic data from RNA sequencing, our work will shed more light on previously ignored 'deep intron' regions that could cause splicing abnormalities. Splicing abnormalities cause downstream abnormal protein production that would lead to unique phenotype." Nomura's high-throughput genetic analyses are expanding our understanding of HCM and the complex genetic interactions that underlie its pathology. As they increase the understanding of the genes involved, they increase the chances of being able to develop a drug to reverse or even prevent HCM. In the meantime, they are creating a robust genetic diagnostic tool for the disease. Nomura's methods and findings also provide a key proof that this method may well be essential to understand, diagnose and treat other inheritable diseases which we do not yet fully understand. This could open up a whole new realm of knowledge about a variety of currently, untreatable and difficult to diagnose genetic diseases.