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. The United States Patent and Trademark Office (USPTO) issued patents for the identification and methods of detecting the familial dysautonomia gene 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. An exclusive licensing agreement with the Dysautonomia Foundation allows the foundation to make sure that all researchers around the world have free access to the FD gene. 
 
In the early 1990s, the Dysautonomia Foundation began funding MGH researchers to find the gene that causes FD. The goal was achieved in 2001 by Gusella and Slaugenhaupt. Since that time, their work 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.
 
 

 
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, tens of thousands of people at risk have been screened for the FD trait, and hundreds who did not previously know they were "dual carrier couples" have been able to reduce or 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 have developed FD mouse models. 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 FD genes from  humans.
 
Researchers have developed mice with FD-like symptoms and have modeled human FD gene splicing deficiencies. They have successfully kept these mice alive for extended periods of time to study their development and test potential genetic therapies on the mice. While FD in a mouse is not exactly identical to FD in a human, we are hopeful that these projects 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 has been 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 limited clinical safety and dosage studies that involved giving kinetin to healthy FD carriers and people with FD.  The foundation is also planning to fund further research to identify and evaluate other compounds that may be useful as genetic therapies for FD.
 
 
FD Research Conferences
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.
 
In September 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.
 
In 2011, another research conference, also in NYC, brings together the largest-ever meeting of FD clinical, translational and basic science researchers in an effort to inspire new projects and promote collaboration among the world's leading FD researchers.