Patricia Inácio, PhD, science writer —

Mutations in the GARS gene — found in people with Charcot-Marie-Tooth disease type 2D (CMT2D) — halt the first steps of protein production, new research shows. Specifically, the mutations cause ribosomes — the factories where proteins are assembled — to stall protein production. Therapies that can overcome this ribosome-pausing…

A potential gene therapy for Charcot-Marie-Tooth disease type 1A (CMT1A) has shown promising results in a two-year study using a mouse model of the disease. According to a press release from the CMT Research Foundation, which is funding the study, the gene therapy led to marked reductions in…

Scientist Jun Li has won a $246,172 grant to develop new MRI biomarkers to assess disease progression and response to treatment in people with Charcot-Marie-Tooth disease type 1A (CMT1A). The grant, from the National Center for Advancing Translational Sciences of the National Institutes of Health, will fund a project…

The CMT Research Foundation has teamed up with AcuraStem and scientist Alessandra Bolino, PhD, to test potential new therapies for Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe form of the disease with early onset. CMT4B1 is caused by mutations in the gene MTMR2, which is involved in the…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

Scientists have pinpointed a new genetic mutation in the PMP22 gene as the cause of Charcot-Marie-Tooth disease type 3 (CMT3) in a 26-year-old Chinese man. Titled “A novel PMP22 insertion mutation causing Charcot–Marie–Tooth disease type 3,” the case report was published in the journal Medicine. The…

Corrective foot surgery lessened pain and improved foot alignment and quality of life in patients with Charcot-Marie-Tooth (CMT) disease, according to data collected over four years. The findings were published in an article, “A prospective study on surgical management of foot deformities in charcot marie tooth…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

Scientist Timothy Hines, PhD, was awarded a grant of $20,000 to establish cell models to study Charcot-Marie-Tooth (CMT) disease at the recent live-streamed Young Investigator Draft ceremony. The grant, co-funded by Uplifting Athletes and the CMT Association (CMTA), will help Hines to use human cells to further…