Study 1 - Nager Syndrome
This study is being run through the research wing of Seattle Children's Hospital and is using new DNA sequencing technology to look for the gene that causes Miller & Nager Syndromes.
This study requires DNA (blood) samples from as many affected individuals with Nager Syndromes as possible and their families as well. Samples from the affected individual as well as both parents (when possible) are needed to aid in pinpointing the cause of both of these syndromes.
Please contact Maggie McMillin for more information or if you wish to particpate:
Contact: Clinical Research Coordinator Maggie McMillin
Principal Investigator: Michael Bamshad, MD
Email: margaret.mcmillin@seattlechildrens.org
Phone: 206-221-3849
Pager: 206-469-1668
- Currently using a new DNA sequencing technology to look for the gene that causes Nager Syndrome after its successful use in locating the gene responsible for Miller Syndrome
- Need to collect DNA samples from as many families affected by Nager Syndrome (affected individual and both parents if available) as possible
- Testing other families will confirm that we have the correct gene
- If parents are not able to contribute a sample, we can still accept a sample from an affected individual
- If a hospital has DNA stored, we can try to get that sample first
- If no DNA is stored, we need a small blood sample from each person (about 1-2 tubes, 10-20ml, depending on age)
- Research team will pay all of the blood draw and shipping charges
- Research team can help to coordinate blood draws and send samples from all over the world
- All identifiable information is kept confidential and samples are coded with a number so that privacy is protected
- Consent forms are required to be signed for each person sending a sample in order to include the sample in the study (forms available in Spanish)
- Questions about study and participation or interest to send sample, contact study coordinator, Maggie McMillin. Or, give permission to DeDe Van Quill for the researcher to contact you by emailing her at dede@fnms.net.
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