Fordham University            The Jesuit University of New York
 


Researchers Discover Treatment for Genetic Disorder

Contact: Michele D. Snipe
(212) 636-7013
snipe@fordham.edu


NEW YORK — Two years after discovering the genetic cause of Familial Dysautonomia (FD), Fordham scientists have developed a therapeutic treatment that may help relieve the symptoms of the neurological disease, according to a study published in the latest issue of Biomedical and Biophysical Research Communications.
Berish Rubin, Ph.D., chair of Fordham’s Department of Biological Sciences, and Laboratory Director Sylvia Anderson, Ph.D., have discovered that tocotrienols, one of two molecules that make up the vitamin E family, provide various health benefits for FD patients. Some of the benefits of this over-the-counter supplement include an increase in energy, a reduced number of FD-related crises and weight gain. The tocotrienol treatment produces functional IKAP RNA, which produces functional protein, which brings relief to FD sufferers. RNA is a protein-producing molecule generated by DNA.
In 2001, Rubin and a team of Fordham researchers discovered that FD, which affects people of Ashkenazi Jewish descent, is caused by mutations in the IKAP gene, found on chromosome 9.
The Fordham team used the DNA sequence decoded by the Human Genome Project to determine FD’s cause. The disorder 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 disease, also have problems perceiving sensations, such as pain and heat. The life span of FD sufferers is severely compromised and often includes long hospital stays.
Founded in 1841, Fordham is New York City’s Jesuit University. It has residential campuses in the Bronx, Manhattan and Tarrytown, and the Louis Calder Center Biological Field Station in Armonk, N.Y. 5/03

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