News

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

A newly identified mutation in the ATP1A1 gene associated with an intermediate form of Charcot-Marie-Tooth disease (CMT) was found in an adolescent in Spain, scientists report. The mutation, detected through genetic analysis of CMT patients in a specific region of Spain, adds to the increasing number of ATP1A1 mutations…

Scientists have developed a new animal model of X-linked Charcot-Marie-Tooth disease type 6, or CMTX6, which is caused by a mutation in the gene PDK3. This new worm model — the first for CMTX6 in a living organism, according to researchers — may provide insights into treatment approaches…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

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…

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…