News

This weekend at the Westgate Park Open Air Shelterhouse in Columbus, Ohio, walking one step will make an even bigger footprint in the Charcot-Marie-Tooth (CMT) community. On Saturday, nearly 50 people will walk a mile around the park to raise funds for the Charcot-Marie-Tooth Association (CMTA) and…

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…

From sporting special gear to joining a “Band Together” class — a workout session using resistance bands to improve range of motion among Charcot-Marie-Tooth patients — supporters are marking CMT Awareness Month, observed each September. Advocates say heightening awareness is vital to increasing the recognition, diagnosis, understanding, and…

A new way to rapidly identify compounds with the ability of lower production of PMP22, a protein that is overproduced in Charcot-Marie-Tooth disease type 1A (CMT1A), has been developed, and could be helpful in spotting molecules with a potential to treat this disease. The approach takes advantage of gene…

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…

Two approved compounds, the antibiotic florfenicol or the MitoQ antioxidant supplement, prevented symptom development in a mouse model of Charcot-Marie-Tooth disease (CMT) caused by mutations in the GDAP1 gene, a study shows. Notably, these benefits were associated with a reduction in oxidative stress, an imbalance between the production of…

Abnormalities in cellular transport and in mitochondria (the cell’s powerhouses) are a common feature of motor neurons derived from people with four different subtypes of Charcot-Marie-Tooth disease type 2 (CMT2), a study shows. Notably, treatment with a suppressor of DLK — a molecule involved in mitochondrial damage and transport…

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…

New genetic analysis tools identified previously unknown genetic mutations in people diagnosed with various types and subtypes of Charcot-Marie-Tooth (CMT) disease, a study reveals. The new techniques used to discern different genes and rare variants may enable researchers to improve detection rates of this neuropathic disorder. The study, “…

Following the Olympics, now comes the Tokyo 2020 Paralympic Games, which will spotlight thousands of competitors with various disabilities from more than 150 countries across the globe. Competing for Team USA in swimming will be Jamal Hill, of Southern California, who has Charcot-Marie-Tooth (CMT) disease. Along with five other…