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An 11-year-old girl was diagnosed with Charcot-Marie-Tooth (CMT) disease only after the disease-causing mutation was detected by whole-genome sequencing, after being missed by other detection methods, according to a case report. This case highlights how in-depth genetic sequencing technologies might be the most reliable for diagnosing genetic diseases…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Despite improving certain physical features, orthopedic foot surgery did not seem to improve strength, foot function, or overall quality of life in children with Charcot-Marie-Tooth disease (CMT), a small study suggests. However, the authors note, more study is needed in larger trials to fully determine the impact of…

Because Charcot-Marie-Tooth (CMT) disease ran in her family, Denise Snow suspected in high school that frequent falls were more than clumsiness. “I recognized the disease in myself,” said Snow, 63, after a Charcot-Marie-Tooth Association (CMTA) patient conference in Detroit. “As time went on, symptoms increased. I started…

The Charcot-Marie-Tooth Association (CMTA) has granted $1 million to scientists searching for treatments, but it could cost up to $500 million to bring a viable disease therapy to market, according to the organization’s CEO, Amy Gray. Speaking April 27 to more than 100 people at CMTA’s Patient & Family…

Gene therapy can be of benefit even after neuropathy has begun, research in a mouse model of X-linked Charcot-Marie-Tooth disease (CMTX) found. The study, “Gene therapy after onset of neuropathy provides therapeutic benefit in a model of CMT1X,” was presented by Kleopas Kleopa at the 2019 American…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

A combination of gene therapy and a strategy called RNA interference (RNAi) successfully repaired disease-related alterations in nerve cells derived from patients with Charcot-Marie-Tooth disease type 2A (CMT2A), according to a study. The study, “RNAi/gene therapy combined approach as therapeutic strategy for Charcot-Marie-Tooth 2A,” was presented…

Patients with dominant intermediate Charcot-Marie-Tooth disease type C (DI-CMTC) experience progressive nerve damage, disability, and gait and quality of life deterioration, according to a follow-up study over 16 years. The findings, “Prospective 16-year Longitudinal Study of Dominant Intermediate CMT Type C Neuropathy,” were presented at the…

With an estimated 1.37 billion inhabitants, India will likely surpass China in five years as the world’s most populous country. That also means it will have more rare-disease patients than any nation. It already has more than twice as many as the 28-member European Union. Harsha K. Rajasimha, a genomics…