ANZAC Research Ins t itute use s NextCODE’s diagnostics and discovery solutions to mine entire genome s for novel mutation s in X - linked Charcot - Marie - Tooth syndrome
C AMBRIDGE , M assachusetts , 23 June 2014 – NextCODE Health today annou nced that a team at the ANZ AC 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 progressive ly debilitating neurodegenerative disorder . It tends to man ifest 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 va riants never before linked to CMTX ,” said Dr Marina Kennerson, Pri ncipal 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 te chnologies 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 s can 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 struc tural variations , and identify variants that lie outside the usual coding are as of genes ,” said Jeffrey Gulcher, MD PhD, president, CSO and c o - founder o f NextCODE. “ Th is is pathbreaking work . We are proud and excited that our tools are able to help the se clinicians deliver the best care to their patients and broaden the understanding of this disease.”
NextCODE puts the world’s most p roven sequence analysis platform in the hands of clinicians and researchers around the globe, enabling them to use the fu ll 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.
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