Contact: Pam McDonnellNYU Medical Center212-404-3555
MEDIA ADVISORY
NYU Medical Center's Dysautonomia Specialist Comments on Gene Discovery
Dr. Felicia Axelrod is available to comment on new research that uncovered the gene for familial dysautonomia, a degenerative nerve disease that occurs almost exclusively among Ashkenazi Jews.
Dr. Axelrod, the Carl Seaman Professor of Dysautonomia Treatment and Research in the Department of Pediatrics and Professor of Neurology at NYU School of Medicine, has devoted her career to disorders affecting the autonomic and sensory nervous systems and is one of the world's leading experts on familial dysautonomia. Her textbook, Familial Dysautonomia Manual of Comprehensive Care, now in its third edition, provides caregivers with information on everything from diet and dental care to blood pressure management.
"The discovery of the gene is a milestone that will greatly facilitate the identification of people who carry the genetic mutation for familial dysautonomia, and will accelerate efforts to find a definitive treatment," says Dr. Axelrod, who is also the Director of the Dysautonomia Treatment and Evaluation Center at NYU Center. "With this gene in hand, it will also be easier to test more-distant relatives of people with this disease, such as first cousins, and NYU Medical Center will coordinate this kind of testing. The discovery of the gene is truly a remarkable achievement."
Two research groups have independently discovered the gene causing the disease, and their studies are published in the March issue of the American Journal of Human Genetics.
Familial dysautonomia disrupts the autonomic nervous system, which controls such functions as blood pressure, body temperature, and the sensory nervous system, which recognizes pain. Patients often don't feel physical pain, so they may break a bone or burn themselves without being aware of the injury. Another symptom is crying without tears. Despite improvements in treatments, only about 50% of patients reach age thirty.
Over the past 30 years, Dr. Axelrod's work also has shed light on other hereditary diseases affecting the sensory and autonomic nervous systems. To date seven distinct hereditary sensory and autonomic neuropathies have been identified, including familial dysautonomia.
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