New Jersey is a major center for research into the cause and treatment of Tourette syndrome, a neurological disorder known by its “tics,” or involuntary vocal and physical behavior, which often are accompanied by other ills like attention deficit disorder, obsessive compulsive disorder, depression and anxiety. Now that research is poised to move into high gear: Rutgers University has been designated the nation’s Tourette cell repository by the National Institute of Mental Health.
The university received $1.5 million to collect DNA samples from individuals with Tourette syndrome and their families at nearly 20 sites in the United States, Europe and Asia. These genetic samples will go to Rutgers and be made available to scientists conducting Tourette research worldwide.
Getting more cell samples to study is critical to moving the research forward, according to Rutgers Professor Dr. Jay A. Tischfield, who for 40 years has been doing research on mental disorders, including autism, alcoholism, and addiction. About five years ago, he began working on Tourette syndrome in collaboration with the New Jersey Center for Tourette Syndrome (NJCTS), a nonprofit that supports families affected by the disorder, and educates teachers and doctors.
Rutgers houses the Rutgers University Cell and DNA Repository, a repository for material aimed at understanding the genetic causes of common, complex diseases. It’s the largest university-based repository in the world, and Tischfield collaborated with the NJCTS to create a Tourette cell repository there in 2007.
So far it has collected samples from about 500 individuals with Tourette syndrome and their families, mostly New Jersey residents. And that repository has provided Tischfield and his colleagues with the genetic material to conduct research on the causes of the disorder. The National Institute of Neurological Disorders and Mental Health, part of the National Institutes of Health, says an estimated 200,000 Americans have the most severe form of Tourette syndrome, while as many as 1 in 100 exhibit milder symptoms such as chronic motor or vocal tics.
Since the federal government took over the Tourette repository in the fall of 2011, and provided funding to significantly increase the collection of samples from around the world, research on the disorder moves to a much wider horizon, Tischfield said.
Previously, the Tourette repository was funded by the NJCTS, whose primary mission is to support those with the disorder and their families. Faith Rice, NJCTS executive director, said the group has provided education about Tourette syndrome to more than 60,000 New Jersey school teachers, and also hosts lectures for family physicians on the disorders. NJCTS recently started a blog where teenagers with Tourette talk about how they cope. The NJCTS continued to fund the repository despite suffering major cutbacks in state funding, to about $400,000 a year from $1.2 million a few years back.
“The major stumbling block to doing research on Tourette’s has been a lack of [DNA] samples,” Tischfield explained. “You can’t just do research on samples from five or 10 people. You need hundreds if not thousands of samples because the disease itself is very heterogeneous — meaning it doesn’t have the same cause in everybody.”
Since the repository began collecting DNA samples, Tischfield and his team have performed genetic analysis that has begun to yield results, and they have published two research papers on their work. The NIMH grant is now expanding sample collection at sites in the United States and overseas, including Yale University, Children’s Hospital of Philadelphia, Seattle Children’s Hospitals and Indiana University, and in Denmark, the United Kingdom, Spain, Germany, the Netherlands, and Korea.
In 2010, Tischfield’s research team published in the New England Journal of Medicine a study of the genetic analysis of DNA from one family. “We looked at one very large family with a lot of individuals affected by Tourette’s, and everyone with the disorder also had a mutation in a gene that produces one of the chemicals that is responsible for brain signaling,” Tischfield said. “This was a big finding, because this is the first brain pathway that has been identified for Tourette’s.”
Based on the research, another group of scientists is conducting a clinical trial on a compound that is active in that brain pathway and could eventually yield a drug to treat Tourette syndrome, Tischfield said. Currently there is a lack of drug therapies targeted at Tourette, and instead patients take drugs that were developed for other neurological disorders and have shown some efficacy against Tourette, he said.
The increase in sample collection will enable research to move into a much more ambitious phase, Tischfield said. “Once we have a large enough sample we intend to apply for funds to do a full-fledged molecular genetics analysis of the entire set [of DNA samples], and that is a very expensive proposition.”
That work will require about 5,000 samples, which would include between 1,500 and 2,500 from individuals affected by Tourette syndrome, and the remainder from their families, Tischfield said. The repository now has about 500 samples. Reaching 5,000 will take about three years, and the molecular genetics analysis will cost about $10 million.
To increase funding for Tourette research, advocates are looking to Congress for help. In December, Representative Albio Sires (D-13th) introduced a bill to fund Tourette “centers of excellence” around the country. The awards would be made on a competitive basis.
“Tourette syndrome is a misunderstood disorder that is too often stigmatized,” Sires said in a statement. “While symptoms can be suppressed over time, too many individuals — particularly children — face the everyday challenge of trying to manage tics, whether at school or in various social settings. Through expanded and collaborative research, we can learn more about the cause and treatment of the disorder to help improve the lives of those individuals impacted by Tourette syndrome.”
If the legislation is enacted, Tischfield will probably apply to become a Tourette center as part of consortium that would include Rutgers and Yale University. “It will be very competitive and I think we would have an excellent shot.” An alternative is to apply to the National Institutes of Health for a grant “and hope we generate enough excitement from the program people that it gets a high enough score that it is fundable.”
Tischfield has experience with federal research grants. He obtained more than $100 million in funding from the National Institute of Mental Health in the past few years for research on schizophrenia, autism, bipolar disorder, alcoholism, and other conditions. Currently there are no drugs specifically for Tourette syndrome, he said. “The drugs treat the symptoms: the tics, or the obsessive compulsive disorder, or the attention deficit. There are no drugs on the market that were developed specifically for Tourette’s. They use drugs that were developed for other purposes but have some value in ameliorating the symptoms.”
It will take years to make major strides against Tourette syndrome. “This is a long haul,” said Tischfield, who has been doing research for four decades. “It’s only over a 40-year period that I see progress.” With Tourette syndrome, “it will take years to define the [neurological] pathways” associated with the disorder, “and it will take more years to define drugs that could affect those pathways.”
The role of the federal government in the Tourette repository “means there will be greater awareness,” according to Rice, the executive director of NJCTS. “The outreach will be done by the National Institute of Mental Health, and the opportunity for researchers worldwide is even greater.” The sites that will now collect DNA samples for the repository are distinguished scientific institutions, she said. “We have recruited the best of the best from around the world to be part of this project.”
NJCTS, which was founded in 2000, has provided training about the disorder to more than 60,000 New Jersey classroom teachers, who often are the first to identify symptoms of Tourette syndrome among children, who may not be diagnosed until age six or seven, Rice said. NJCTS also provides opportunities each year for several doctoral candidates in the Rutgers graduate school of psychology to work with Tourette families as part of their studies. “There are waiting lists for both the [graduate] students and the families — it has been a wonderful program,” Rice said.
Tourette syndrome, “is a very difficult disease to live with,” Rice said. “You can’t hide it. When you are “ticing” people look at you, and you are constantly in a position of having to leave or explain, so it is very difficult.”
The NJCTS faces the specter of a state budget cut each year. “Every year I spend too much time advocating to keep my funding in place,” Rice said. “The state needs to look at what we have done and recognize the importance of what we have done, instead of reducing our funding. This is an asset, something that needs to be continued.”