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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…

Two new mutations in the LRSAM1 gene linked to Charcot-Marie-Tooth (CMT) disease type 2P were found in eight non-related French families, according to researchers. Their findings were published in the study, “LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2,” was published…

The Charcot-Marie-Tooth Association (CMTA) has awarded approximately $1 million in grants to scientists worldwide investigating treatments and a cure for the disease of the peripheral muscle-controlling nerves. The grants bring to more than 50 the number of Strategy to Accelerate Research (STAR) projects the association is funding, according…

Further studies are needed to understand how mutations in genes coding for aminoacyl-tRNA synthetases (aaRSs) may help fuel Charcot-Marie-Tooth (CMT) disease, researchers say. Their study, “Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases,” was published in the Journal of Biological Chemistry. Proteins are…

Treatment of Charcot-Marie-Tooth (CMT) disease represents a substantial economic burden, which increases with age, disease severity, comorbidities, obesity and perceived impairments, according to a German study. The study, “Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany,” was published in the journal Neurology. The team…

A large kindred (group of related people) of Charcot Marie Tooth disease type 1B (CMT1B) patients revealed an increasing incidence of facial spasms and intense nerve pain with age, two uncommon conditions in the disease. The study, “A Charcot Marie Tooth Type 1B Kindred Associated with…

For more than four decades, comedian Jerry Lewis hosted the MDA Labor Day Telethon on behalf of the Muscular Dystrophy Association. That annual event helped the MDA become the nation’s largest non-government source of funding for neuromuscular disease research, with more than $1.4 billion disbursed since its establishment 68…