by Mary Ann Roser in the Austin American Statesman
published January 12, 2011
An Austin couple, on a quest to find a cure for their terminally ill daughter, spearheaded a discovery of a genetic test that could one day help would-be parents discover if they are at higher risk for having a baby with a genetic disorder.
The test can’t save Christiane Benson, the 8-year-old daughter of Craig and Charlotte Benson of Austin, who has Batten Disease, a neurodegenerative disorder that leads to blindness, mental deterioration, a loss of motor skills and death typically in the teens or early 20s. But some of the money ultimately raised by the testing will be used to fund research aimed at finding a treatment or cure for Batten Disease. The rest will go toward improving the test, said Craig Benson, 48.
A paper published today in Science Translational Medicine describes the “next-generation sequencing” technology that the researchers say could help prevent parents from unwittingly passing diseases to their children. Researchers said the paper, in which they describe how they examined the entire genetic code of 104 human blood samples, also contains some surprises that could enhance understanding about disease inheritance.
The test would be able to detect some 448 devastating rare disorders.
The Bensons, below, founded the nonprofit Beyond Batten Disease Foundation in August 2008 after Christiane was diagnosed. They have raised several million dollars and dedicated more than $1.5 million toward developing the genetic test.
“What this means for Christiane … is the faster we can generate funds, the faster we can help find something that can slow or stop this disease,” Craig Benson said. “Beyond that, I would say, for Christiane, this is her legacy.”
Researchers led by the nonprofit National Center for Genome Resources in Santa Fe looked for genetic mutations in the blood samples and found, to their surprise, that the average person carries about three recessive childhood disease mutations. If each parent carries the same defective gene, they have a one in four chance of having a child with the disorder. Christiane’s brother, Garland, 6, does not have Batten Disease.
The idea of the test is for couples to be screened before having a baby. If they found out they shared the same recessive gene, they could choose to adopt or have a baby another way. The journal article carries an editor’s note that says “it may be some time” before the new test is available. The Bensons and the researchers are more optimistic; they think the test will be on the market by the third quarter of this year.
The test was better than 95 percent accurate — about as good as one can be in a laboratory setting — but it needs to be validated by thousands of samples clinically before it can be offered to the public, said Dr. Stephen Kingsmore, the senior author of the paper.
A more detailed story will appear in tomorrow’s print edition of the Statesman.