CHICAGO --- Johnny Doe (not his real name) is a little boy who is helping unravel a mystery for scientists at Northwestern University Medical School and Duke University.
Johnny was born with spina bifida, a common birth defect that deforms the spinal cord and which researchers believe may be linked to mutations in certain genes. Spina bifida affects about four of every 1,000 children born.
To assist in the search for these aberrant genes, Johnny and his parents and families like them contributed DNA samples to the Spina Bifida Genetic Research Project at Northwestern.
Program researchers are analyzing DNA samples from the Does and other families whose children have spina bifida to determine which genetic traits are found more often in these families and how these genes interact with each other and the environment. They also are conducting experiments to identify genes that may increase risk for spina bifida.
Jeffrey S. Nye, M.D., directs the program and is principal investigator on three National Institutes of Health-sponsored studies to determine the genetic basis of spina bifida. Nye, who also has a Ph.D., is an assistant professor of molecular pharmacology and biological chemistry and of pediatrics at the Medical School and at Childrens Memorial Hospital.
Numerous studies have implicated certain drugs, nutritional status (such as folic acid deficiency) and genetic factors in the development of spina bifida, yet scientists are still uncertain as to its actual cause.
Nye, with Northwestern co-investigators David G. McLone, M.D., Joel Charrow, M.D., John F. Sarwark, M.D., and Marcy Speer, Duke University, identified a number of common traits among families who have a child with spina bifida, such as deafness, areas of the hair and skin that lack pigmentation, early graying of the hair and deformities of the face and hands.
"For decades, researchers have known about the increased risk to families for having a second or third
Contact: Elizabeth Crown