CRISPR Screen Identifies Genetic Modifiers of ALS

While much of the genetics surrounding amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has been enigmatic for decades, new gene-editing techniques—such as CRISPR/Cas9 —are beginning to help uncover genes in the human genome that may modify the severity of these neurological disorders. Researchers at Stanford University just published their recent findings in Nature Genetics in an article entitled “ CRISPR-Cas9 Screens in Human Cells and Primary Neurons Identify Modifiers of  C9ORF72 Dipeptide-Repeat-Protein Toxicity .” Using the new gene-editing screen, the researchers uncovered a new set of genes that may hasten neuron death during disease.

Accounting for nearly 40% of inherited cases of ALS and 25% of inherited FTD cases, disease-causing mutations in the gene C9ORF72 leads to the insertion of extra DNA sequences, called hexanucleotide repeats, into that gene. These repeats produce potentially toxic RNA and protein molecules that kill neurons resulting in problems with movement and ...