Organizations teaming up to increase awareness, improve public education for one of the most common neurological conditions
Affecting nearly 3 million people worldwide, Charcot-Marie-Tooth (CMT) is a group of inherited disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord. There are more than 80 kinds of CMT; each is caused by a different kind of mutation, and more causes are being discovered every year. CMT is just one kind of neuropathy (also called peripheral neuropathy), meaning that the peripheral nerves are damaged. There are many other causes of neuropathy, including the most common cause—diabetes.
Genetic testing plays an important role in the diagnosis of CMT. Subtypes of CMT can be associated with different disease severities and symptoms, but the clinical presentations vary by individual and it is difficult to distinguish the subtypes based on disease presentation alone. Genetic testing allows clinicians to:
“So many people endure years of either missed diagnosis or a lack of diagnosis because they don't receive genetic testing,” said Patrick Livney, CEO of the CMTA. “Invitae offers us an entirely new tool that provides the testing of more genes at a more affordable price than many single-gene tests today.”
The sponsorship is geared towards education for both clinicians and patients through webinars, seminars, and scientific sessions.
“The role that patient advocates like the CMTA play is hugely important in providing not only support and education, but in potentially helping people diagnose disease sooner,” said Scott Topper, clinical geneticist at Invitae. “That’s consistent with our mission. We are committed to making genetic testing more affordable and more accessible for millions of patients.”
Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene diagnostic tests today.
The Charcot-Marie-Tooth Association (CMTA) is a registered 501c3 dedicated to serving an international patient community that suffers from rare and disabling neuropathies of genetic origin (http://www.cmtausa.org). The CMTA directly engages its STAR scientific and clinical research network in the identification, validation and clinical development of therapies for the different Charcot-Marie-Tooth disorders.
Invitae’s (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Currently focused on hereditary cancers, Invitae’s goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene tests today. The company currently provides a single diagnostic service comprising over 200 genes for a variety of genetic disorders associated primarily with cancer, but also covering cardiology, hematology, neurology, and pediatrics.