Researchers need your help!
Dear ST sufferers:
I am writing to update you on our ST genetic research and also to ask for your help. You have probably seen our ads over the years and have heard of our studies. We are a research group working out of Beth Israel Medical Center in New York City under the direction of Dr. Susan Bressman, Chair of Neurology. For years we have been funded by the NIH and private foundations to study the genetics of torticollis and other forms of dystonia. While we have made great strides with some forms of dystonia, the torticollis genes have proved to be quite illusive.
Here are some of the difficulties we have encountered:
Torticollis is a heterogeneous disorder . This makes finding genes difficult because in order to do so we need to be certain that we are studying a group of people who share the same gene. This certainty can only be attained by studying members of the same family. However, in order to say that a specific piece of genetic material harbors a dystonia gene, the families we study need to have many affected individuals. Such families are very difficult to find because torticollis genes have very low penetrance . This means that although a gene carrier has a 50-50 chance of passing a torticollis gene on to a child, only a small percentage of those who get the gene, somewhere between 12 and 15% will ever have symptoms. Typically these symptoms come on later in life , usually sometime in the 4 th decade. This means that in most families we can study only 2-3 generations, as the last generation is usually too young to exhibit symptoms. In addition, some people who might have had symptoms may pass away before the age when symptoms are most likely to develop. People also often lose touch with their extended families , limiting the number of individuals we can study in a family. Finally, some families have a combination of symptoms which may include tremor or other types of movements. This makes analysis of genetic data more difficult because it is not clear whether the different symptoms are caused by the same gene for torticollis or by 2 genes, one for torticollis and one for tremor. Thus, it is hard to know how to classify patients in data analysis.
Despite these difficulties, we have gathered data on hundreds of families over the years who have graciously contributed their time, energy, and blood for the study, and we feel an obligation to these families to continue to learn as much as we can about torticollis, so that there can be help for future generations.
At present we are in the process of putting together samples from our largest families so that we can run a genome scan. This is an expensive and involved process which looks for segments of DNA that are shared by people with symptoms more often than would be expected by chance. Typically, genome scans turn up a number of DNA segments which then need to be followed up with further labor intensive assays to test whether the association is real or not.
You can help!
The good news is that we do have a number of large families with 5-8 affected individuals, and we would love to find some of their long lost relatives. We are particularly interested in anyone who has other family members affected with torticollis or another form of dystonia (for example: dysphonia, writer's cramp, blepharospasm) or if you have no other family members with dystonia, but are of Amish/Mennonite, Ashkenazi Jewish, or French Canadian ethnicity, or you have mild torticollis and have had a remission.
Participation in our study involves a phone interview to obtain medical and family history, and sending us a blood sample and records by mail. If possible, we would also like to examine you or have you make us a videotape of yourself so we can evaluate your symptoms. You will not need to come to New York to participate.
Lets get together to maximize our understanding of torticollis! We look forward to hearing from you!
Sincerely,
Deborah Raymond, MS
Genetic Counselor
If you can help please contact Deborah Raymond or Erin Ohmann at: Beth Israel Medical Center, 10 Union Sq E, Ste 5H, New York, NY 10003, toll free 888-228-1688, e-mail: HYPERLINK "mailto:draymond@chpnet.org" draymond@chpnet.org , or HYPERLINK "mailto:eohmann@chpnet.org" eohmann@chpnet.org .
