...in collaboration with the Broad Institute of Harvard and MIT, we apply whole exome sequencing in a large cohort of patients with unexplained limb‐girdle weakness
The objectives of the project are:
- to contribute to the diagnostic pathway for patients affected by known forms of limb girdle muscular dystrophy
- to contribute to the improvement of the diagnostic awareness of rare neuromuscular diseases among physicians
- to speed up the integration of next-generation sequencing technologies into healthcare
The focus on undiagnosed patients with a defined clinical phenotype enables increased diagnostic rates for disease causing mutations in known genes in this cohort. Whole exome sequencing also provides scope both for new gene discovery and for additional research into disease modifiers and genotype‐phenotype correlations.