30 New Genes Affiliated with Charcot Marie Tooth Disease Identified

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…

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Mouse Study Reveals Possible Therapy for Charcot-Marie-Tooth Disease
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Mouse Study Reveals Possible Therapy for Charcot-Marie-Tooth Disease

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…

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Study Recruiting CMT1A Patients for Compensated Study
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Study Recruiting CMT1A Patients for Compensated Study

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…

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Experimental Compound Shows Benefit in Mouse Model of Charcot-Marie-Tooth Disease Type 1A
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Experimental Compound Shows Benefit in Mouse Model of Charcot-Marie-Tooth Disease Type 1A

According to a story from Charcot-Marie-Tooth News, an experimental HDAC6 inhibitor called CKD-504 appeared to restore myelination in mouse and cell models of Charcot-Marie-Tooth disease type 1A in a recent…

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September is Charcot-Marie-Tooth Disease Awareness Month: Spreading Rare Disease Awareness
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September is Charcot-Marie-Tooth Disease Awareness Month: Spreading Rare Disease Awareness

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…

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Study Shows How Extra PMP22 Gene in Patients with CMT1A May Cause Cellular Toxicity
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Study Shows How Extra PMP22 Gene in Patients with CMT1A May Cause Cellular Toxicity

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.…

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Charcot-Marie-Tooth Disease Type 1A: Experimental Three Part Therapy Shows Potential
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Charcot-Marie-Tooth Disease Type 1A: Experimental Three Part Therapy Shows Potential

According to a story from Charcot-Marie-Tooth News, a recent study suggests that the three components of the investigational therapy PXT3003 work in synergy to improve the condition of patients with…

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Charcot-Marie-Tooth Disease: CMT Australia Gets $10,000 Grant Towards Youth Outreach
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Charcot-Marie-Tooth Disease: CMT Australia Gets $10,000 Grant Towards Youth Outreach

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…

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ICYMI: Better Research Means Better Outcomes for Charcot-Marie-Tooth Disease Patients
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ICYMI: Better Research Means Better Outcomes for Charcot-Marie-Tooth Disease Patients

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…

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Scientists Develop of Model of Charcot-Marie-Tooth Disease Neurons
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Scientists Develop of Model of Charcot-Marie-Tooth Disease Neurons

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…

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New Study Evaluates Peripheral Neuropathy Associated with Chemotherapy in Charcot-Marie-Tooth Disease Gene Variants
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New Study Evaluates Peripheral Neuropathy Associated with Chemotherapy in Charcot-Marie-Tooth Disease Gene Variants

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…

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Nonprofit Encourages Charcot-Marie-Tooth Disease Patients to Stay Active
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Nonprofit Encourages Charcot-Marie-Tooth Disease Patients to Stay Active

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…

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New Study Finds Potential RNA Treatment for Charcot-Marie-Tooth Disease Type 1 A
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New Study Finds Potential RNA Treatment for Charcot-Marie-Tooth Disease Type 1 A

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…

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New Marker Found to Track Disease Progression in Charcot-Marie-Tooth Disease Type 1a

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.…

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Charcot-Marie-Tooth Does Not Increase Risk of Reproductive Complications
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Charcot-Marie-Tooth Does Not Increase Risk of Reproductive Complications

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,…

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SEPT9 Gene Variant Plays Role in Development of Charcot-Marie-Tooth Disease
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SEPT9 Gene Variant Plays Role in Development of Charcot-Marie-Tooth Disease

  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…

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This Journal Highlights Current Research on Neuromuscular Diseases (NMD)

In a Special Issue of the journal Disease Models and Mechanisms Highlights, James J. Dowling et al describes pediatric neuromuscular diseases as mostly genetic and affecting areas of the peripheral…

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