News

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…

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…

Genetic analysis conducted by researchers in China has advanced the understanding of Charcot-Marie-Tooth (CMT) disease and related disorders, a study suggests. The analysis revealed a relatively higher proportion of those with subtype CMT2 and a lower occurrence of PMP22 gene duplication, a common genetic defect linked to the condition,…

Thickening of the cauda equina — a bundle of nerves at the end of the spinal cord — was found for the first time in two siblings with a milder form of Charcot-Marie-Tooth disease type 4 subtype H (CMT4H), a case study reported. This finding warrants further investigation regarding…