NIA’s Traynor Wins 2016 Potamkin Prize
Dr. Bryan Traynor of NIA’s Laboratory of Neurogenetics and Dr. Rosa Rademakers of the Mayo Clinic have been awarded the 2016 Potamkin Prize for their contributions to research in Pick’s, Alzheimer’s and related neuromuscular diseases.
Presented by the American Academy of Neurology on Apr. 18 in Vancouver, the award specifically recognizes their discovery of the genetic mutation in the C9ORF72 gene responsible for a large number of cases of frontotemporal dementia and amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease). This finding provides an important mechanistic link between the two diseases.
The mutation in the C9ORF72 gene is a repeat expansion—small blocks of DNA are repeated over and over again, hundreds or even thousands of times.
“The repetitive nature of this mutation makes it particularly amenable to therapeutic interventions using gene therapy and has many in the field wondering if these two diseases can be treated with the same, or similar, interventions,” Traynor said. “This work is already being pursued in laboratories around the world.”
Chief of the lab’s neuromuscular diseases research section since 2009, Traynor focuses his efforts on unraveling the genetic etiology of ALS and other neuromuscular disorders. His research team is also noted for conducting the first genome-wide association study of ALS, identifying the chromosome 9p association signal for ALS in the Finnish founder population and discovery of mutations in other genes that cause familial ALS and dementia.