A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…
Like many of us, people living with Charcot-Marie-Tooth (CMT) disease make resolutions to become healthier and more fit. But while starting something new can be exciting, finding out what exercises are best when you have a limiting condition can be tough to navigate. In the Exercise and Physical Therapy area…
A specific portion of a protein contributes to the stability of myelin, the coating that protects nerve cells, according to a mouse study that has implications for Charcot-Marie-Tooth (CMT) disease. The findings on periaxin could shed light on the molecular mechanisms involved in CMT type 4F, researchers said. Their study…
Researchers have found that two proteins, Sox2 and Id2, play a protective role in preventing further damage in specialized nervous system cells of a mouse model of Charcot-Marie-Tooth disease type 1B (CMT1B). The study titled, “Sustained expression of negative regulators of myelination protects Schwann cells from dysmyelination in a…
Researchers found that HERC1 protein may be important for the production of myelin, the protective layer in peripheral nerves. This discovery, from a mouse study, increases scientific knowledge about the processes involved in several demyelinating disorders, including Charcot-Marie-Tooth (CMT) disease. The study, “HERC1 Ubiquitin Ligase Is Required…
Researchers have found that footwear that provides inadequate support to users negatively affects the gait and balance of children and adolescents with Charcot-Marie-Tooth (CMT) disease. CMT is characterized by progressive damage to peripheral nerve cells, particularly affecting the feet and ankles. Children with this disease often experience gait difficulties due…
True Reply recently committed to donating up to $200,000 from its cryptocurrency sale to support the Hereditary Neuropathy Foundation (HNF) and the Charcot-Marie-Tooth (CMT) disease community. The donation is part of an ongoing collaboration between the tech startup and the nonprofit foundation aimed at enhancing patient-focused…
Researchers have linked a newly identified mutation affecting the HSPB1 gene to a rare subtype of Charcot-Marie-Tooth disease (CMT) in a recent case report from India. The case report, “Charcot Marie Tooth disease 2F and a novel mutation from India,” was described by a team at the…
The online community GeneFo will hold a free webinar this month to provide those living with Charcot-Marie-Tooth (CMT) disease with updated insights into exercise and physical therapy strategies to help manage symptoms. The event, titled “Exercise and Physical Therapy Strategies for CMT Symptoms,” will be held March 29…
Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…
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