In 1991, the genetic causes of Charcot-Marie-Tooth disease (CMT) were completely unknown. By a decade later, MDA-funded scientists had helped identify 10 CMT-linked genes and found evidence for several others. (There are now thought to be more than 30 genes in which flaws can cause CMT.) This accomplishment has led to genetic testing for many types of CMT, which has greatly improved diagnosis.
Of equal importance, the ongoing hunt for CMT genes has given insights into treatments that might be used to stop or reverse the disorder.
As the CMT gene hunt continues, MDA-funded scientists are investigating how and why specific genetic mutations lead to different types of CMT. These insights are expected to lead to improved ability to predict the course of CMT in specific individuals and ultimately to treatments.
The current projects being pursued by MDA-supported CMT researchers include:
In addition to these specific projects, MDA is supporting the CMT North American Database , a secure repository of information about CMT provided by patients and families. MDA also is supporting the North American CMT Network, an extension to the database designed to provide an infrastructure for CMT research.
Clinical trials in CMT  also are under way.