Rare Disease Research Focuses Charcot-Marie-Tooth Syndrome, Guided by DNA Sequencing

rare diseases nextCODE hannes smarasonGenome sequencing is a relatively young technology and has been in active use in the research space for just over a decade. Yet already it has found very meaningful applications in clinical care, supporting the world’s leading researchers in discovering answers to some of the most rare and confounding diseases. The interface between the research and clinical realms is seeing some of the most exciting and fruitful applications of the power of sequencing. The ANZAC Research Institute in Sydney, Australia sits right at this nexus and is using the latest DNA sequencing and interpretation technology from NextCODE to mine genomes in search of genetic mutations that are associated with X-linked Charcot-Marie-Tooth syndrome (CMTX). CMTX is a rare, progressively debilitating neurodegenerative disorder that can be caused by mutations in many different places in the genome, including the X chromosome. At present there is no cure or drug treatment available. The team at the ANZAC Research Institute, recognized for their expertise in familial genetics, sought out the unique capabilities of the NextCODE analysis platform to investigate spaces outside the normal coding areas of genes. The aim is as pioneering as the technology: to identify not just just single SNPs but also structural variants that conventional approaches have not been able to search for systematically and link to CMTX. With dedicated research minds and the latest technology, the program aims to better understand this disease and potentially find novel targets for the development of therapies. This is one great example of the many opportunities to improve lives that are being generated by insights gained through the rapidly evolving field of genome sequencing.