Comprehensive gene and DNA variant curation for neuromuscular diseases

Project: Research project

Project Details


Project Summary/Abstract Neuromuscular diseases are amongst the most common rare diseases and also are characterized by unparalleled locus and allele heterogeneity. In fact, the full extent of the gene and variant spectrum is still unclear with 30-50% of patients with these diseases no receiving genetic diagnosis after large panel and exome sequencing. A sizable part of this diagnostic gap can be attributed to Variants of Uncertain Significance (VUS). A number of initiatives are aimed at reducing the diagnostic gap; mainly these are research studies to identify new genetic loci and alleles and variant curation efforts provide high quality, standardized guidance on pathogenicity for known genes and variants. Here we describe the goals of the recently established ClinGen Neuromuscular Clinical Domain Working Group (NMD CDWG), its executive committee, and the proposed GCEP and new VCEP for three major NMD disease groups comprising 197 genes and over 10,000 variants. We aim to eventually curate the majority of genes causing inherited peripheral neuropathies, muscular dystrophies, and congenital myopathies. A rigorous curation effort, acknowledges by FDA, will be the basis of upcoming gene therapies targeting neuromuscular and related diseases.
Effective start/end date6/15/215/31/22


  • National Institute of Neurological Disorders and Stroke: $381,704.00


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