A new genomic resource may help scientists identify and validate risk factors for ALS. The compendium, published in January 2017 in Genomics Research, includes exome sequencing and C9orf72 genotyping analysis of frozen brain tissue donated by families of more than 1450 patients with neurodegenerative diseases including 220 people with ALS/FTD (Keogh et al., 2017). Clinical and pathological information is also available. The resource also includes genomic analysis of more than 350 controls without significant neuropathology for evaluating potential genetic risk factors for the disease. The brain tissue is available for further investigation by application to researchers worldwide.
The genomic resource, developed by MRC’s UK Brain Bank Network, may help researchers deduce whether multiple mutations contribute to the onset of ALS (see November 2014 news). This disease mechanism, known as oligogenicity, may underlie at least some forms of ALS including C9orf72, the most common form of the disease.
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