Dysautonomia Foundation, Inc.

The FD gene, discovered in 2001, is the key to both FD treatment and the prevention of new cases of FD. Without this discovery, there would be no possibility for many of the recent advances in FD research, or for carrier screening.
 
The Dysautonomia Foundation is proud to have funded the researchers who discovered the gene that causes FD. Since the discovery of the gene, researchers have not only developed a carrier screening test for FD, they have also begun to make progress in understanding the function of the gene and, in turn, begun to develop new FD therapies.
 
In September 2008, the Dysautonomia Foundation sponsored a research conference that brought together many of the world's leading FD researchers in an attempt to inspire collaboration and lay the groundwork for the development of new therapies for treating FD.

 
Topics covered in this article:
FD Gene Patent Awarded
FD Screening Increases
Researchers Develop Animal Models
Development of New Therapies
FD Research Conference

 
FD Gene Patents Awarded to MGH Researchers
Researchers funded by the Dysautonomia Foundation have been formally recognized for the discovery of the FD gene. On June 17 and August 5, 2008 the United States Patent and Trademark Office (USPTO) issued patents for the identification and methods of detecting the familial dysautonomia gene. The patents were awarded to Dr. Susan Slaugenhaupt and Dr. James Gusella of Massachusetts General Hospital. These patents represent an important acknowledgement of their groundbreaking work for discovery of the FD gene and for providing the basis for FD genetic screening.
 
In the early 1990s, the Dysautonomia Foundation took on the mammoth task of funding research to find the gene that causes FD. The goal was achieved in 2001; since that time, this discovery has enabled researchers to not only develop a carrier screening test for FD, but also to begin the difficult tasks of understanding the function of the gene, creating an animal model of the disease, and developing FD genetic therapies.
 
The Dysautonomia Foundation is proud of its long history of sponsoring research projects and treatment facilities that have led to important advances in the care of FD. These advances have resulted in dramatic increases in life expectancy and quality of life for FD patients. The Foundation is especially proud of its dedicated researchers and doctors whose work is the basis for virtually every FD research project that has been conducted to date.
 
 

 
FD Screening Increases
One of the great benefits resulting from the FD gene discovery was the development of a genetic screening test to identify carriers of the FD trait. Approximately 1 in 27 people of Ashkenazi Jewish descent are carriers of the FD trait. For couples in which both the mother and father are FD carriers, there is a one in four chance that each pregnancy will result in a child with FD.  For these couples, alternatives such as in vitro fertilization allow them to have healthy children.  Since the advent of the carrier test, thousands of people at risk have been screened for the FD trait, and hundreds who did not know they were carriers have been able to pursue family planning and eliminate the risk of having a child with FD. 
 
 
FD Researchers Develop Animal Models
Once the FD gene was identified, researchers began to develop animal models of the disease. These models can be used to study the disease and develop new therapies. Several FD researchers are working on the development of an FD mouse model. The process of developing such a model is complicated, and it can involve a variety of alternate techniques, such as "knocking out" the FD gene or replacing the animal's normal gene with an FD gene from a human.
 
One researcher has developed mice with FD-like symptoms and has successfully kept these mice alive for an extended period of time to study their development and test the use of a particular compound, tocotrienols, on the mice. While FD in a mouse is not exactly identical to FD in a human, we are hopeful that this project will help researchers develop treatments that address the underlying mechanisms of FD.
 
 
Development of New Therapies
With the discovery of the FD gene and the identification of the specific splicing defect that is thought to be the root cause of most FD symptoms, researchers have pursued projects aimed at finding drugs and compounds that can correct the defective splicing process. One such compound is kinetin, which was identified by researchers funded by the Dysautonomia Foundation. Since kinetin has never been used internally in humans to treat any disease, it is important to establish that it is a safe substance. Over the course of the past several years, the foundation has funded safety and toxicity research, and the Dysautonomia Center  at NYU has conducted a limited clinical study that involved giving kinetin to healthy FD carriers. The next step, pending FDA approval, will be to conduct a clinical trial with kinetin for FD patients. While we await approval from the FDA and try to determine the best method for using kinetin, the foundation is planning to fund further research to identify other compounds that may be useful as genetic therapies for FD.
 
 
FD Research Conference
The discovery of the FD gene has opened the door to many exciting areas of basic science research. Whereas applied and clinical research in FD tend to focus on specific solutions to specific medical problems, basic science research focuses on underlying principles and mechanisms that can be used by clinicians and translational medical researchers. On September 18th and 19th 2008, experts in the field of familial dysautonomia (FD) came together in New York City to share ideas about current and future directions for FD basic science research, including animal models, genetic therapies and the function of IKAP/elongator. The conference, held in NYC, promoted collaboration among many of the world's leading FD researchers and helped the Dysautonomia Foundation develop a strategy for pursuing future research projects.