NEW YORK (Jan. 9) – Fordham University researchers have identified the cause of a genetic disease that affects one in 30 individuals of Ashkenazi Jewish descent. The findings are scheduled to appear in the American Journal of Human Genetics in March. The Fordham team used the DNA sequence decoded by the Human Genome Project to determine the cause of Familial Dysautonomia (FD). FD is a disorder that affects a person’s autonomic nervous system, which controls such involuntary functions as swallowing, digestion, temperature and blood pressure regulation. Individuals suffering from FD, which is as prevalent as the more familiar Tay Sachs disorder, also have problems perceiving sensations, such as pain and heat. This can be so severe that researchers say an FD sufferer leaning on a boiling pot may not feel it and could be seriously burned. The lifespan of FD sufferers is severly compromised and often includes long hospital stays.
The Fordham team found that FD, which affects people of Ashkenazic Jewish descent, is caused by mutations in the IKAP gene, found in chromosone 9. “This discovery will allow people to be tested to determine whether they are carriers and will allow for genetic counseling,” said Berish Y. Rubin, Ph.D., chairman of Fordham’s biology department. “Also, once the genetic basis for any disorder is known, it is possible to pursue a cure. That will be the next step in our disorder research effort.” Rubin and his research associate, Sylvia L. Anderson, Ph.D. are the principal authors of the paper. Rubin became interested in studying the disorder after a close friend’s nephew was diagnosed with FD. Through this child, his siblings and cousins, Rubin learned first-hand how the disease can ravage a child and a family. “I decided to try to see what I could do for this family,” Rubin said. “It showed me the way FD can affect an entire family.” The Fordham team, which consisted of two senior scientists, four graduate students and one undergraduate student, received support and assistance from Dor Yeshorim, the Committee for the Prevention of Jewish Genetic Diseases.