Researchers have just uncovered 30 new genes that may cause Charcot-Marie-Tooth Disease (CMT). These genes were uncovered using computer analyses of biological data, a process called bioinformatics. This study was published…
Researchers have recently conducted a study using mouse models of Charcot-Marie-Tooth (CMT) disease, titled "CMTM6 Expressed on the Adaxonal Scwann Cells Surface Restricts Axonal Diameters in Peripheral Nerves." It was…
As published in a press release by the Hereditary Neuropathy Foundation, a project funded by the National Institutes of Health (NIH), researchers at the University of Rochester, the University of Pennsylvania, and…
According to an article from Charcot-Marie-Tooth News, a study was conducted that discovered three new mutations on the GJB1 gene that result in X-linked Charcot-Marie-Tooth disease (CMTX1). The study, which…
September is recognized as Charcot-Marie-Tooth disease (CMT) Awareness Month. Although this illness is one of the most widespread inherited genetic disorders, there is still a significant need to spread awareness…
According to Charcot-Marie-Tooth News, patients with Charcot-Marie-Tooth disease type 1A (CMT1A) have an extra PMP22 gene. However, new research shows that this excess gene causes a toxic accumulation of protein within cells.…
This month is Charcot-Marie-Tooth (CMT) Awareness Month. Due to COVID-19, there cannot be any of the typical events, but that doesn't mean there's nothing you can do. From a virtual…
The CMT Research Foundation has announced that September will be Charcot-Marie-Tooth (CMT) Disease Action Month. The switch from awareness to action illustrates just how much CMT patients and their families…
According to a story from Charcot-Marie-Tooth News, the nonprofit organization CMT Australia, which focuses on serving the Charcot-Marie-Tooth disease patient community in Australia, has recently acquired a grant to the…
Researchers have been trying for years to better understand the mutations which cause the rare disorder called Charcot-Marie-Tooth disease (CMT). Tremendous progress has been made. But now that we know…
According to a story from Charcot-Marie-Tooth News, an all new protocol first described in the journal Brain Sciences could mark a significant advance in Charcot-Marie-Tooth disease research. The protocol allows for the…
Chemotherapy-induced peripheral neuropathy, or CIPN, is a common side effect of chemotherapy. A recent study aimed to uncover whether or not oxaliplatin chemotherapy increased risk of CIPN for those with…
According to a story from Charcot-Marie-Tooth News, a new nonprofit organization called Shark Tooth Cycling has recently begun operations. The mission of the organization is to encourage young people in…
CMT1A Charcot-Marie-Tooth disease (CMT) has a few different subtypes. 60% of all patients diagnosed with type 1 of the rare disease have CMT1A. This subtype means patients have an duplicate copy…
A study conducted by researchers from Aix-Marseille University in France has revealed a new way to track disease progression of Charcot-Marie-Tooth disease type 1a (CMT1a)- changes to the nerves within the thigh.…
In Spain, a young child showed signs of muscle atrophy and difficulty walking; she wasn't quite stable on her feet and struggled with balance and coordination. But it wasn't until…
Finding out that you are pregnant conjures up a lot of feelings: nervousness, excitement, happiness, and love. But if you have a rare disease or disorder, especially a genetic condition,…
A seemingly healthy baby was born in China. But as she grew up, her family started noticing that their daughter wasn't hitting motor milestones. She didn't start walking until she…
For those in the rare disease community, you know that it can take a long time to reach a diagnosis for your condition: an average of 4.8 years! But upon diagnosis, many…
According to Charcot-Marie-Tooth News, a recent case study found that a variation of the SEPT9 gene could contribute to the development of Charcot-Marie-Tooth disease. Read the full findings in BMC Medical Genetics. Charcot-Marie-Tooth…
The Institute for Gene Therapies (IGT) is a new development, aimed at improving the speed of development and accessibility of gene therapies. Gene Therapy Many rare diseases are caused by…
According to a story from BioSpace, the genetic medicines company Passage Bio recently announced plans for its sixth program for gene therapy development. The company plans to work with the…
According to a story from Charcot-Marie-Tooth News, a recent study has revealed that patients with Charcot-Marie-Tooth disease (CMT) type 1A still display signs of muscle weakness even if they retain…
According to a story from Charcot-Marie-Tooth Disease News, Charcot-Marie-Tooth disease is actually somewhat common in the US compared to other rare diseases. In fact, it is estimated that around 150,000…
According to a story from Charcot-Marie-Tooth News, a recent study was conducted that compared the presentation of symptoms between two different variants of Charcot-Marie-Tooth disease (CMT): CMT4B1 and CMT4B2. The…
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