Two research teams have identified the genetic mutation that causes familial dysautonomia, a rare but devastating disease. Killing half of its victims by age 30, this inherited condition disrupts the nervous system's reflexive control of functions such as digestion and breathing. The teams' studies will appear in the March American Journal of Human Genetics.
The discovery paves the way for genetic screening of couples seeking to avoid passing the condition on to their unborn children, says Felicia B. Axelrod, a pediatrician at New York University Medical Center, who coauthored one of the reports. About 1 in 30 Jews of European descent carries the mutation.