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The gene-editing technology CRISPR/Cas9 effectively inactivated a specific mutation in the NEFL gene that causes Charcot-Marie-Tooth disease type 2E (CMT2E), a study reports. Correction of this mutation prevented the harmful buildup of neurofilament light chain (NfL) protein in motor neurons — specialized nerve cells that control muscle function —…
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Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…
The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…
In an effort to increase stability, columnist Young Lee starts using AFOs for the first time since childhood. It’s a learning curve, he says.
Click the link below to find all the latest news related to Charcot-Marie-Tooth disease.
Becoming educated and informed about Charcot-Marie-Tooth disease is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnists’ words of wisdom to help you along on your CMT journey.
There is no cure for CMT yet, but here you can find more information about current therapeutic approaches, as well as experimental treatments that are in the pipeline.
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