Autonomic and Sensory Dysfunction, Familial Dysautonomia
Research Summary
This patient group is genetically homogenous population with consistent neuropathologic lesions involving the sympathetic nervous system and unmyelinated sensory fibers. Dr. Axelrod''s publications have included
descriptions of symptoms, development of patient management programs and analysis of statistical information. In addition, expertise has been developed in the assessment of other sensory and autonomic disorders which has led to numerous referrals of other pediatric disorders with autonomic dysfunction and other congenital sensory neuropathies.
Currently, Dr. Axelrod''''s is collaborating with investigators around the world to further understand the association between particular genetic changes causing abnormalities in the development of the sensory and autonomic nervous system and the variations in expression of the diseases caused by these genetic changes. The goal is to apply this information to the patient so that better supportive treatments are developed for the various problems associated with sensory and autonomic dysfunction such as labile blood pressures and centrally induced nausea and vomiting. In addition as the specific genes are discovered for each of the congenital disorders, it is hoped that definitive therapies will be developed.
In 2001 the gene for FD was identified as IKBKAP. This has resulted in availability of carrier screening and prenatal diagnosis. It is anticipated that there will eventually be clinical trials of drugs that affect genetic expression.
Research Information



