Familial Dysautonomia (FD) is an autosomal recessive disorder characterized by altered intrauterine development of the autonomic and sensory nervous system. The disorder is progressive and neuronal survival also may be compromised.

Patients with FD have trouble swallowing liquids, do not produce overflow tears, and become hypotensive when they stand. They are relatively insensitive to pain and experience dramatic fluctuations in blood pressure and body temperature. They suffer episodic autonomic crises of vomiting, retching, and extremely high blood pressure (J. Ped. 110:946-948, 1987).

Mutations in the IKAP gene were recently shown to cause FD. In over 95% of patients, a single intronic base substitution that affects the splicing of the IKAP transcript was identified [Am. J. Hum. Genet. 68: 598-605 and 753-758, 2001]. This splicing alteration is tissue (i.e., neuron) specific. A point mutation in the coding region has also been identified. The IKAP protein has recently been shown to be a component of the transcription Elongator complex [PNAS 99: 3047, 2002] and also to interact with jun kinase (JNK) [J. Biol. Chem. 277: 3918, 2002]. The molecular/cellular mechanisms causing FD are not understood.

The Dysautonomia Foundation is accepting grant applications for studies of the cellular and molecular biology, biochemistry, and clinical pathology of FD. Studies leading to novel therapeutic strategies for FD are also encouraged.

Application Procedure

The Dysautonomia Foundation will make grants for a two-year period for up to $100,000/year. These should typically be pilot studies, the completion of which will allow investigators to apply successfully for NIH grants. Support of a postdoctoral fellow will also be considered.

Grants will be renewable depending on productivity. Funded researchers will be expected to freely share reagents developed from these research grants with other Dysautonomia Foundation funded investigators and to attend an annual meeting to present and discuss their results.

Please submit a five page proposal (not including figures or references) detailing the proposed project along with CVs of the Principal and Co-Investigators (with current Other Support) to the:

Dysautonomia Foundation Inc.
633 Third Avenue, 12th Floor, New York, NY 10017-6706
 
Email: dys212@aol.com  (preferred method)
 
Fax: (212) 682-7625
www.familialdysautonomia.org 

Further information on FD is on the web site. The application must be submitted by either post, fax or email (preferred) on or before January 15, 2003. The awards will be announced on February 28, 2003.

For additional information, please contact the Dysautonomia Foundation at (tel): 212-949-6644, (fax): 212-682-7625 or (email): dys212@aol.com