ANZAC Research Institute uses NextCODE’s diagnostics and discovery solutions to mine entire genomes for novel mutations in X-linked Charcot-Marie-Tooth syndrome
June 23, 2014
NextCODE Health today announced that a team at the ANZAC Research Institute in Sydney, Australia have used NextCODE capabilities to home in on novel sequence variants underlying X-linked Charcot-Marie-Tooth syndrome (CMTX). CMTX is a rare and progressively debilitating neurodegenerative disorder. It tends to manifest itself in childhood and can be caused by mutations in many different places in the genome including the X chromosome, which is the focus of this study.
“Through our research and gene discoveries we want to answer difficult questions and translate our findings into clinical practice, to provide the best care and contribute to new treatments. NextCODE’s platform has enabled us to use whole-genome sequencing to identify variants never before linked to CMTX,” said Dr Marina Kennerson, Principal Research Fellow at ANZAC Research Institute and Associate Professor at Concord Hospital and the University of Sydney.
Professor Kennerson and colleagues at ANZAC Research Institute combine expertise in familial genetics and the latest sequencing technologies to find mutations that cause inherited neuropathies. Faced with cases that they had not been able to solve with other technologies, she and her team turned to NextCODE for tools to systematically scan the entire genomes of patients and family members for both known and novel causal mutations.
“Professor Kennerson and her team were able use our Clinical Sequence Analyzer™ and Sequence Miner to filter for rare variants in candidate genes, scan for structural variations, and identify variants that lie outside the usual coding areas of genes,” said Jeffrey Gulcher, MD PhD, president, CSO and co-founder of NextCODE. “This is pathbreaking work. We are proud and excited that our tools are able to help these clinicians deliver the best care to their patients and broaden the understanding of this disease.”
NextCODE puts the world’s most proven sequence analysis platform in the hands of clinicians and researchers around the globe, enabling them to use the full power of NGS data to better diagnose and treat disease. Our solutions combine the only whole-genome analysis system proven at scale with access to the largest and most successful clinical genetics reference database in the world. That gives our partners accurate and actionable insights in real time, with the ability to exploit all their NGS data and visualize mutations at base-by-base resolution – right from their desktop. NextCODE is a private company headquartered in Cambridge, Massachusetts. Visit us on the web at nextcode.com.