1J Foundation, Dr. Stephan Zuchner and University of Miami Miller School of Medicine

ITPR3 gene mutation

The CMT Research Foundation and the 1J Foundation have joined forces to support the development of a mouse model for CMT1J, a newly identified subtype of Charcot-Marie-Tooth disease. Led by Dr. Stephan Zuchner at the University of Miami, the project aims to understand how mutations in the ITPR3 gene, which regulates calcium flow in nerve cells, contribute to CMT1J. The model will be available for other researchers to study the disease. The collaboration reflects both organizations’ commitment to finding effective treatments for all forms of CMT, particularly addressing the urgent need for therapies for CMT1J patients, who can experience varying degrees of severity.

 

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