January 28, 2013 Foundation News

Seed Grant’s Worldwide Success: Advancing Science One Gene at a Time

Twenty years ago the BRF funded Dr. Kári Stefánsson’s research. Since then he has been advancing science one gene at a time. 
When I first read the article in the New York Times on a researcher from Iceland, the name, Kári Stefánsson, seemed familiar. So I wasn’t too surprised to find out that I knew the name because the BRF awarded Dr. Stefánsson several Fay/Frank Seed Grant Awards from 1982 to 1993. He was then a faculty member in neurology at the University of Chicago. The topic of his seed grant projects varied from better understanding cancer to identifying possible proteins involved in multiple sclerosis. 
In 1996, Dr. Stefánsson decided to return to his homeland of Iceland to start a company called deCODE Genetics. deCODE Genetics’ goal is to analyze and understand the human genome, identifying key genetic risk factors for dozens of common diseases. 
In July 2012, Stefánsson and his colleagues reported online in the top-tier journal Nature that they discovered a rare gene mutation that protects people against Alzheimer’s disease. While this “protective” mutation is uncommon, it provides strong evidence that excessive levels of a normal brain peptide, amyloid beta, play a major role in the development of Alzheimer’s disease. The mutation protects the brain by slowing the production of amyloid beta. This is good news to companies that have been focusing on developing drugs that reduce brain amyloid beta levels as effective therapies that may slow the progression of Alzheimer’s. 
Later that year, Dr. Stefánsson’s team made news again by publishing that there was a direct correlation between the number of genetic mutations in children and the age of the father at conception. Over the years, a lot of focus has been put on the mother’s age and the health of the child. But apart from Down syndrome, it seems that the father’s age plays a more significant role than once thought. Studies suggest that disorders such as schizophrenia and autism are influenced by the age of the father, not the mother. 
The BRF played a major part in Dr. Stefánsson’s early career, and we continue to help other scientists in theirs, advancing the understanding of neurological disorders. Our office may be in Chicago but it is thrilling to see what impact the Brain Research Foundation is having all over the world. 
—Terre A. Constantine. Ph.D., BRF Executive Director