CMTA announced today a $423,000 investment to address diagnostic gaps and drive new CMT gene discoveries. Led by CMTA-STAR Advisory Board Member Stephan Züchner, MD, PhD, at The GENESIS Project Foundation, this investment will expand the GENESIS database and research platform, which currently houses more than 2,500 CMT genomic datasets, improving diagnostic success and drive discoveries in CMT genetics.
Today, up to 50% of people with CMT lack a confirmed genetic diagnosis, and as many as 40%–50% of identified variants remain classified as variants of uncertain significance (VUS), leaving many without clear answers. This CMTA-STAR initiative will address this urgent challenge by applying cutting-edge genomic technologies such as long-read sequencing and advanced AI-driven analysis to uncover the genetic causes of CMT.
“CMTA has been an incredible partner in supporting the GENESIS genomic database and research platform, a game-changer for CMT genetics over the past decade,” said Dr. Züchner. “This project will expand GENESIS, improve diagnostic success for undiagnosed CMT, and empower researchers worldwide.”
The SORD gene, one of the most impactful CMT discoveries, was identified using GENESIS technology developed in Dr. Züchner’s lab. This groundbreaking discovery led to CMTA-STAR Alliance Partner Applied Therapeutics’ ongoing INSPIRE Phase III clinical trial, launched just two years after SORD’s discovery. Expanding the GENESIS platform will help researchers pinpoint additional CMT-causing genes, paving the way for new treatment possibilities.
“This CMTA-STAR initiative builds on our existing partnership with GENESIS, which has already led to the discovery of 30 CMT genes, including the transformative SORD gene,” said Katherine Forsey, PhD, CMTA Chief Research Officer. “Expanding this resource isn’t just about solving diagnostic puzzles; it’s about delivering answers to families and equipping the community with knowledge that brings us closer to cures.”
CMTA-STAR’s collaborative research model unites scientists, clinicians, and the patient community to drive advances in precision diagnostics and gene discovery. With this latest investment, CMTA continues its mission to accelerate research, improve diagnostics, and lay the groundwork for future treatments and a cure.
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A CMTA Patients as Partners in Research opportunity is seeking community members who, despite all efforts, still don’t have genetic confirmation of their CMT. Click the Participate in Research button below to learn how you can help drive CMT gene discovery.
Together, We Drive Progress
CMTA-STAR’s impact is only possible because of the generosity and participation of our community. This INC study is 100% funded by donors who believe in a future without CMT and made possible by those who step forward to participate in research. Those who make research possible fuel every breakthrough, clinical study, and scientific discovery. Your support accelerates research, drives treatment development, and brings hope to everyone with CMT.
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Published on: February 4, 2025