With CMTA support of $210,000, researchers led by Andrea Cortese, MD, PhD, at University College London (UCL) Queen Square Institute of Neurology are using advanced long-read DNA sequencing to uncover the genetic causes of CMT that remain undiagnosed after standard testing.
June 2026 Update
The Cortese lab continues its systematic reanalysis of genetic data from more than 1,400 people with CMT, using improved analysis tools and detailed clinical information to increase the number of individuals receiving a genetic diagnosis in known CMT genes.
So far, this work has contributed to the identification of two newly recognized CMT genes, KCTD11 and PIGB. In addition, the researchers found that variants in TUBB3, a gene previously associated primarily with developmental disorders affecting the brain and eyes, can also cause CMT.
The team has completed development of a comprehensive long-read sequencing analysis pipeline capable of detecting multiple types of genetic mutations, including changes that standard testing can miss. The researchers also demonstrated that stored DNA samples can meet the quality requirements for long-read sequencing, supporting the use of existing biobank collections in future studies.
Based on this CMTA-funded work, the Cortese lab has secured additional funding to perform whole genome sequencing in approximately 800 CMT patients who are unable to obtain genetic confirmation, creating new opportunities to identify genetic causes for further investigation using long-read sequencing.
