Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
I recently caught up with my friend, Estela Lugo, who is an inspiring professional and mom living in New York City as well as a thriver living with Charcot-Marie-Tooth (CMT) disease. It’s almost impossible to believe when talking to her, but in…
Two new mutations causing Charcot-Marie-Tooth disease type 1 (CMT1) were identified in the gene PMP2, and associated with variable clinical severity, including slow progression of disease and mild symptoms, according to a study. The study, “Peripheral myelin protein 2 – a novel…
Neuropathic pain — that due to damage in the nervous system — affects almost one-third of patients with Charcot-Marie-Tooth type 1 A (CMT1A) and is linked to greater disability and depression, a study from Serbia reports. The study “Neuropathic pain in patients with Charcot-Marie-Tooth type 1A” was published in…
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…
Using CRISPR/Cas9 technology to reduce the expression of the gene PMP22 in nerve cells can improve nerve functioning and limit demyelination (damage to the protective covering that surrounds nerve fibers) in a mouse model of Charcot-Marie-Tooth disease 1A (CMT1A), a new proof-of-concept study reports. The study, titled “…
Embelin, a small molecule, rescues hallmark features of Charcot-Marie-Tooth (CMT) disease by stopping a mutant protein from entering the cell’s nucleus, a study in a fly model of the disease showed. Titled “Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy,” the study was published…
A novel mutation in the gene PRPS1 was identified in the first case of X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) in China. The finding was described in a case report published in the journal Neuropathology, titled “A novel mutation in PRPS1 gene causes X‐linked Charcot‐Marie‐Tooth disease‐5.”…
Researchers have successfully used adeno-associated virus-mediated gene therapy to treat mice that replicated a novel mutation found in a Charcot-Marie-Tooth Type 2D patient with severe disease. The study describing the scientists’ work, “Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models,” was published in the…
Mutations in the GDAP1 gene — which are linked to Charcot-Marie-Tooth disease type 2K (CMT2K) — can affect how well mitochondria are able to keep cells supplied with essential energy, a lab study reports. However, the severity of mitochondrial impairment varies according to a mutation’s site within the gene. The study…
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