@cureclcn6.bsky.social
We are a 501c3 dedicated to raising awareness of ultra rare neurodegenerative mutations on the CLCN6 gene, providing support and advocacy to impacted families, and funding the research and development of treatments for these devastating diseases.
But we are always open to discussing different options and Dr. Hi in China developed an siRNA with great success in a mouse model for the variant some of the children with CLCN6 mutations have. They’re just not sure that it would be enough for our variant to prevent lysosomal dysfunction.
Help support Cure CLCN6!
We are competing to win a grant from Project For Awesome!
100% of the grant will go towards funding a life-saving gene therapy for CLCN6 mutations, at UMass Chan Medical School.
Please vote and share!
projectforawesome.com/videos/proje...
Yes there is a Dr. in China working on this with mice. The problem is that The Max Delbruk center did an analysis on Paxton’s variant and they are unsure if gain-of-function or loss- of-function. So both Jentch and UMass thought it best to do a silence and replace model.
We are parents of an 8-year-old with a CLCN6 mutation and have only found 2 families impacted by these mutations. Thus, we are looking for other families who are impacted by mutations on this gene! Please visit our youtube channel in which we discuss our journey.
www.youtube.com/@CureCLCN6
We recently had the honor of being guests on the "Once Upon a Gene Podcast" with Effie Parks where we discussed our rare disease journey and creating Cure CLCN6 Inc. in our efforts to develop a gene therapy for CLCN6 gene mutations.
effieparks.com/podcast/clcn...
In order to learn more about our organization and mission, please visit our website at CureCLCN6.org