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July 12, 2019July 12, 2019

Schwann Cells Discovery May Be Good News for CMT Research

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New findings suggest that Schwann cells are able to make the protective layer myelin for multiple nerve cells. This discovery goes against conventional wisdom about how Schwann cells work, ... Read more

July 9, 2019July 9, 2019

$10M in NINDS Grants Will Support CMT Biomarkers Project at URMC

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Some $10 million in National Institute of Neurological Disorders and Stroke (NINDS) grants aimed at accelerating clinical trials in rare neurological disorders will support a Charcot-Marie-Tooth (CMT) disease biomarkers ... Read more

July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although ... Read more

July 2, 2019July 2, 2019

Structure and Workings of Key Mutated Protein in CMT Type 2Y Detailed in Study

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The key protein mutated in patients with Charcot-Marie-Tooth (CMT) disease type 2Y works to break down cellular complexes via a sort of “hand over hand” mechanism, a study found. ... Read more

June 28, 2019June 28, 2019

Poorer Physical Activity in CMT Children Linked with Higher Disability

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Children with Charcot-Marie-Tooth disease have reduced physical activity and ambulation, factors linked with greater disability, a study suggests. The study, “Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional ... Read more

June 26, 2019June 26, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 25, 2019June 25, 2019

Study Identifies CMT-Causing Mutations in Novel Gene

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A new study reports two mutations in the gene C1orf194 that cause Charcot-Marie-Tooth disease (CMT), adding to the body of knowledge about genetic causes of the condition. The study, “Mutations ... Read more

June 20, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, ... Read more

June 20, 2019June 20, 2019

New Gene Modifiers May Explain Disease Variability in CMT1A, Study Suggests

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A group of potential gene modifiers have been found that may explain the reason why patients with Charcot-Marie-Tooth disease type 1A (CMT1A) who share the same genetic mutation experience ... Read more

June 18, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most ... Read more

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