Finding Your CMT Gene: The Distant Cousin Project
Every CMT gene discovery starts with a question. For individuals with undiagnosed CMT, that question is often: Why haven’t we found the gene yet?
CMTA’s response: Together with you, we’re accelerating genetic discovery, and the Distant Cousin Project is a powerful example.
Funded by a CMTA community donor and led by CMTA’s Strategy To Accelerate Research (CMTA-STAR) Advisory Board member Stephan Züchner, MD, PhD, at the University of Miami, this research study focuses on individuals with CMT who have received negative genetic test results. Its aim is to identify new CMT genes by comparing the DNA of people with CMT and their distant relatives who are also affected.
Why distant cousins? Because they share far less DNA than close relatives, making it easier for researchers to spot shared mutations that could point to a genetic cause.
This approach is already producing results. Through participation in the Distant Cousin Project, researchers have identified mutations in two new genes: ITPR3 (CMT1J) and COQ7 (CMT-COQ7). These discoveries were only possible because families took the initiative to connect, share their information, and fuel discovery with their participation.
The study is limited to ten families and is currently enrolling. To be eligible, participants must meet these criteria:
- A confirmed clinical diagnosis of CMT
- A previous negative result from genetic testing
- A distant relative (such as a third or fourth cousin) with CMT and similar test results
All samples are analyzed using GENESIS, a collaborative genomic research platform and database developed by Dr. Züchner and his team. GENESIS is the same platform behind dozens of rare disease gene discoveries, including the groundbreaking CMT-SORD discovery. This work is only possible because of the community’s support, from the donor who made the project a reality to the families willing to help connect the dots. If you think you might qualify, or if you’re ready to help advance CMT gene discovery,
If you think you qualify for this study, please contact Dr. Züchner directly.
