CMT is a genetic disease caused by distinct changes in the DNA of a patient and these are typically transmitted in families. Although over 100 different genes, each causing a CMT subtype, have already been identified, more than 50% of patients do not receive a genetic diagnosis today. We call this the diagnostic gap in CMT. We have set out to address this issue by aggregating genetic data (panels, exomes, and genomes) from patients into a common database.
This database is available to qualified researchers in the field and this form of data sharing has already led to the discovery of more than 25 new CMT genes in recent years. One of the most important discoveries is the SORD gene, which constitutes the most common recessive form of CMT2 and a therapeutic approach is being tested in a phase III clinical trial less than 2 years after publication. The database of choice for this project is the GENESIS database and analysis platform. It contains now more than 2,500 CMT datasets from over 30 countries.
Any researcher can upload datasets and share them with colleagues. We also set out to build new advanced analysis methods into this database, such as machine learning. These efforts continue the stream of new CMT gene discoveries, such as the ITPR3 gene, a newly confirmed CMT1 gene, the FICD gene, the CADM3 gene, and expanded phenotypes of the ATP1A1 gene.
Patients with access to their genome data from clinical testing are free to contact us to add their data to this resource. The long-term goal is a database of 10,000 CMT genomes available for research studies.
Cortese A, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 2020 May;52(5):473-481.
Published: May 22, 2023