Karina Vaile is an accomplished visual artist, but a diagnosis of Charcot-Marie-Tooth (CMT) disease type 1 subtype A 12 years ago gradually forced her to change the way she paints her pictures. These days, she uses her mouth to help her hands. Because CMT symptoms, such as joint pain,…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
A rare mutation in the myelin protein zero (MPZ) gene leads to higher-than-normal levels of the MPZ protein and is associated with an intermediate form of Charcot-Marie-Tooth disease (CMT), a study in China shows. Notably, the mutation, affecting four generations of a Chinese family, was present in only one MPZ gene copy,…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
The proteins NCAM1 and GDF15 are present at higher-than-normal levels in the blood of people with Charcot-Marie-Tooth disease (CMT), and in mouse models of the disease, a new study indicates. Scientists think these proteins may be useful biomarkers across types of CMT. The study, “NCAM1 and…
Mesenchymal stem cells (MSCs) can boost myelin-producing cells and the function of peripheral nerves — which supply movement and sensation to the arms and legs — in a mouse model of Charcot-Marie-Tooth type 1A, a study shows. The therapeutic benefits of MSCs, which can give rise to many…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
The co-occurrence of mutations that affect more than one gene may explain more severe cases of Charcot-Marie-Tooth (CMT) within members of the same family, a small Chinese study says. According to the researchers, this should be considered whenever CMT patients within the same family show differing symptoms. The report…
In a study spanning 15 years, South Korean researchers investigated the clinical, genetic, and imaging features of Charcot-Marie-Tooth (CMT) disease in more than 1,100 families with this group of peripheral nervous system disorders who underwent gene sequencing focused on the NEFL gene. The team identified 10 mutations in…
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