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This one is about: Sticklers Research Project
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Sticklers Research Project
A parent writes: The NIH (National Institute of Health) is conducting a 5 year research project. I believe they are looking for other Stickler mutations besides the already identified COL2A1. It will take months, if not years to conclude all the testing. I actually got a call today from the NIH geneticist. They are sending me a medical questionnaire and a release form so that they can get all of Hannah's medical records. I guess a blood draw will take place after all the information has been collected. The geneticist said that there were over 50 families taking part in the study.
This is from the Stickler Involved People Newsletter:
"The National Institute of Health is conducting a 5 year study of Stickler Syndrome, to connect the molecular (laboratory) findings with the clinical findings (symptoms). If you wish to be considered to be a part of this study contact Dr. Doug Wilkin at 301-435-3497.
This is a study that so many of us have been waiting for. It will cover a broad base of people (at least 300), over a period of years. One of the intents is to help predict the progression of stickler syndrome, by knowing the affected gene."
I had waited for months to hear from the NIH and she just happen to call today.
We are still going to do the independent testing (not research based) that costs $1500.00. If our insurance would not have paid, then we would not be doing it. Also, we could have an answer in as little as 4 to 6 weeks. With the NIH study it could be a year or more.
The University of Iowa Molecular Opthamology Lab is also doing extensive Stickler research. Dr. Nina Ahmad and Dr. Brown are heading that research. I am not sure if it involves any Stickler testing though, just a lot of tissue research involving the eyes and Sticklers.
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