Dr. Christopher Pearson will receive another one year of support to continue work on the biology of the most prominent genetic cause of ALS, C9ORF72, which is mutated by having pieces of DNA abnormally replicated into long stretches that are dysfunctional.
Through his work supported by a 2015 Bridge Grant, Dr. Pearson will now be able to extend his focus to learning more about why these stretches happen and focusing on a discovery of a particular substance called MutSβ that typically is very good at fixing damaged DNA, but can actually worsen situations where genes are abnormally elongated, as with C9ORF72. By working at both levels, Dr. Pearson’s lab should both gain important insight into how C9ORF72 mutations cause toxicity in ALS and also further develop MutSβ as a potential target for therapy. Dr. Pearson has spent his 16 year career focused on diseases caused by these specific elongation mutations and when the field first identified C9ORF72 as an ALS gene in 2011, he brought his expertise to the table in an effort to contribute knowledge that wasn’t pre-existing in the community.