Rutgers University researchers share DNA in hunt for Tourette syndrome clues
Daily Record
Oct 22, 2012

In the midst of the hustle and bustle of Rutgers University’s Busch Campus (in New Jersey), a laboratory’s study may hold secrets that someday could help thousands.

Within the Rutgers University Cell and DNA Repository in the Life Sciences Institute lies the New Jersey Center for Tourette Syndrome Sharing Repository. A unique collaboration, the repository collects DNA in the form of blood or saliva from Tourette syndrome patients and family members for research studies.

A sharing resource of clinical and genetic data, the repository can be accessed by researchers around the world and is the only one that houses data from Tourette syndrome patients, said Gary A. Heiman, who runs the daily operations of the collaboration with the New Jersey Center for Tourette Syndrome and is a Rutgers assistant professor in the Department of Genetics.

Tourette is an inherited neurological disorder characterized by tics, which are repeated involuntary movements and uncontrollable vocal phonic sounds. The disorder has been found to have a genetic connection, and the research examines whether specific segments of DNA or genes are associated with Tourette and related behaviors, such as chronic tics, obsessive compulsive disorder and attention deficit hyperactivity disorder.

“A large percentage of TS patients, about 60 percent, have other disorders, such as OCD (obsessive-compulsive disorder) and ADHD (attention deficit hyperactivity disorder), as well,” said Jay A. Tischfield, director of the Human Genetics Institute and a professor in the Department of Genetics.

“These other disorders can be even more debilitating than the tics,” Heiman added.

Tourette symptoms, which typically reveal themselves in childhood, often are exacerbated in the teen years. Often, this can lead to ridicule and bullying in school.

“We want to find ways to help make them feel less alienated and alone,” Tischfield said. “Children can be chastised or teased for things they can’t help. In learning, their skills diminish. They can be regarded as a nuisance in class. These are extremely talented kids that can end up literally on the trash pile. It is a consistent problem, and it is something that can be avoided.”

Children with Tourette grow into adults with Tourette, though, for some, symptoms can lessen with age, he said.

“They still suffer and have to work through challenges,” Heiman said. “It does not disappear. It is not just a problem for particular individuals. It is a community problem.”

Not so rare
Previously, Tourette was thought to be much more rare than it is, NJCTS board President Tim Omaggio said. Therefore, attention to it in terms of research funding and medical knowledge was equally rare.

“There is not much research on TS,” Tischfield said. “And in science, in medicine, it is often the squeaky wheel that gets the grease. In the past, the TS community was not well organized. There were no advocacy groups that pushed for research and federal dollars. We needed to increase the recognition.”

“We were dealing with a lot more ignorance,” Omaggio added.

Action occurs when enough people get together and move in unison to a common goal, Tishfield said.

The Somerville-based not-for-profit NJCTS was created in response to this need. An offshoot of the Tourette Syndrome Association of New Jersey, NJCTS was formed in 2004 as a center of excellence, with support from the srtate Department of Health and Human Services. Its purpose was to offer a wide variety of coordinated services, such as effective treatment options, support and professional assistance.

“We had a helpline,” Tishfield said. “We expanded into providing services such as legal advocacy at the school level. We educate teachers, administrators and the medical community. We offer advocacy throughout the state. We have expanded to have an even broader impact with the affiliation with Rutgers and the sharing repository.”

Celebrating its fifth year, the sharing repository was established in 2007 and is the world’s first for Tourette. It recently was designated as the nation’s Tourette cell repository by the National Institute of Mental Health and received a grant of $1.5 million to collect the DNA samples at about 20 sites in the U.S., Europe and Asia.

The NJCTS sharing repository can be accessed by qualified researchers worldwide, Tischfield said. When requested, DNA and cell-line samples are provided for research. Maps dotted with pins showing the various sites around the nation and the world that have received samples are hung one of the hallways of the repository.

In the genes
Genetic studies have shown that Tourette is inherited as a dominant gene, and a person with it has about a 50 percent chance of passing on the gene to one or more offspring. Once thought to be a rare disease, Tourette in some degree is now believed to affect as many as 1 in 100 people in some manner, Omaggio said. Approximately 200,000 Americans have full-blown Tourette.

“We are learning that it is not one disorder,” Tischfield said. “There are underlining diagnoses, which can’t be classified as one disorder.”

Tischfield and Omaggio are fathers of grown sons with Tourette, so this study hits close to home.

“Life turns on a dime,” Tischfield said. “We had been researching a number of diseases, and Faith Rice, the executive director of NJCTS, called and asked how come Tourette syndrome was not listed. I did not have a good answer for that. I have a son with TS. I should have had a better answer. As a result, I become more active. The field needed a push scientifically.”

Tischfield said many agencies offer advocacy, training and education, but not many offer research.

“I thought, ‘Why not New Jersey as a nucleus?’ ” he said. “We are studying how genes can cause Tourette syndrome. Getting the cell samples is critical to moving the research forward.”

According to Tischfield, Heiman and Omaggio, the research that stems from the repository hopefully will lead to identifying genetic factors that might be a cause of Tourette and related disorders. In turn, more appropriate treatments, unhindered by serious side effects, and perhaps, even a cure, could be forthcoming.

Tischfield hopes research from the study will lead to new pharmaceuticals and treatments, and he said six clinical trials are under way.

“I would like to see them able to design specific treatments that are tailor-made before the next generation,” he said. “There is nothing specific for disorders like this. There won’t be until we know what causes it.

“We need to better understand the mysterious disorder. This leads to the whole concept of personalized medicine. We are moving into that area for TS specifically. It will be exciting not to have to practice 19th-century medicine.”

Importance of data
Because Tourette is a genetic disorder, the study seeks to establish why some individuals in a family are affected while others are not. As a result, it is important to collect data from affected and unaffected family members.

“We are looking to get the whole family’s data,” Tischfield said. “It is actually rare for only one child to be affected in a family.”

Heiman added that because NJCTS is a leader in the state, it is extremely useful in recommending people for the study.

The repository was established in 1998 as part of the Department of Genetics at Rutgers. Besides the collection of Tourette data and DNA, the larger repository is the world’s leading organization supporting genetics research, collaborating on more than 300 project sites around the world.

“We started with seven to eight employees that I moved here with their families from Indiana in 1998,” said Tischfield, whose first project involved alcoholism. “We had a revenue of less than $1 million. Now we employ 130 people and (have) annual revenue of more than $30 million.”

The repository has established more than 200,000 cell lines and extracted and distributed more than 1 million DNA samples worldwide.

Besides Tourette, collections and studies have involved alcoholism, drug abuse, autism, bipolar disorder, diabetes, schizophrenia, depression, progeria, longevity, chronic kidney diseases, Alzheimer’s disease, anorexia nervosa, OCD, ADHD, inflammatory bowel disease and others. It also houses more than 1,600 cell lines from southwestern American Indian families affected with Type 1 diabetes and is registered as an American Indian burial ground because all of the original donors have died.

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