At this year’s American Academy of Neurology annual meeting, held April 15 -21 in Vancouver, Canada, Rosa Rademakers and Bryan Traynor received the 2016 Potamkin Prize for Research in Pick’s, Alzheimer’s, and Related Diseases. They share the $100,000 award for their studies on the genetics of neurodegenerative disease, most notably their independent discovery of a hexanucleotide expansion in the C9orf72 gene that causes frontotemporal dementia and amyotrophic lateral sclerosis (see Sep 2011 news). This finding ended an intense, five-year hunt for a genetic variant on chromosome 9 that segregates with these diseases. Their work touched off an explosion of interest as scientists raced to uncover how the C9orf72 expansion causes ALS/FTD.
Traynor, who works at the National Institute on Aging in Bethesda, Maryland, has also linked mutations in the Matrin 3, CHCHD10, VCP, and TDP-43 genes to ALS (see Johnson et al., 2014; Oct 2014 news on Johnson et al., 2014; Jan 2011 news on Chio et al., 2011; Dec 2010 news).
Rademakers, from the Mayo Clinic in Jacksonville, Florida, was instrumental in deciphering how mutations in the progranulin gene cause FTD (see Nov 2008 conference news on Rademakers et al., 2008). She also identified genetic variants that modulate the effect of the C9orf72 expansion. They include variants in the TMEM106B gene that protect carriers and an expansion in the ataxin 2 gene that seems to disproportionately exacerbate ALS over FTD (see Nov 2014 conference news on van Blitterswijk et al., 2014; Sep 2014 news on van Blitterswijk et al., 2014).
Both researchers collaborate with cell and molecular biologists to uncover potential pathological roles for C9orf72 repeat RNAs and dipeptides, which could become targets for experimental therapeutics.
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