Blood & Tissue Biobank
Participate in SMS Research
Donate blood and/or skin tissue samples to the PRISMS Biobank
In the study of human genetic disorders, samples from patients and their families are a critical resource for researchers; however, it is often a major hurdle to identify families with specific chromosome abnormalities, like Smith-Magenis Syndrome. Thus many researchers rely on tissue and cell "banks" for access to samples from patients with a specific diagnosis.
PRISMS is teaming up with the Coriell Institute to create a "biobank" of blood and skin tissue samples. The Coriell Institute for Medical Research is an independent, nonprofit research organization which houses the world's largest collection of human cell lines. They maintain and distribute thousands of cell lines and DNA samples from individuals with diverse genetic disorders and make them available to researchers around the world for a nominal cost. Their collection is supported by grants from the National Institutes of Health and several private foundations with specific support by the National Institute of General Medical Sciences. To learn more about the cell repositories at Coriell, please see their website at http://ccr.coriell.org.
Coriell's repository collects biological samples and relevant clinical information from donors. All personal identifying information is removed upon arrival to the repository. In the catalog, basic information is provided to researchers ordering cell lines, including gender, race, the age of the individual when the sample was obtained, and if other family members are in the repository. However, all of the information is anonymized, meaning that there is no way for the researcher to know who the sample came from.
Families who want to participate in this research effort can contact the NIGMS Human Genetic Cell Repository genetic counselor, Tara Schmidlen. Families living outside of the United States are welcome to donate a sample to the repository. All interested families will need to sign the Coriell consent forms in order to have their samples in the repository. These forms are being generated and will be available from Tara Schmidlen. For your preview, you can download and view the following sample documents:
Tara J. Schmidlen, MS, CGC
Certified Genetic Counselor
Coriell Institute for Medical Research
403 Haddon Avenue
Camden, NJ 08103
For additional information about donating blood and/or skin samples, please download and view the following documents:
From the 2012 Conference - see Dorit Berlin's presentation.
Some frequently asked questions...
How do researchers know that the Smith-Magenis cell lines are available through Coriell?
The Coriell Cell Repositories are one of the best repository for human cell lines in the country and have a really nice searchable database that helps researchers locate samples (plus they can even match with control lines). They already have approximately 13 cell lines from individuals with Smith-Magenis Syndrome.
As new PRISMS families ask us about how they can get involved in ongoing research, is there someone at Coriell who would coordinate the submission of new cell lines?
As researchers request Smith-Magenis cell lines, will PRISMS learn of their request?
The Coriell Cell Repository can provide PRISMS with a yearly report that details the number of SMS cell lines that are shipped from the repository. However, it is their policy that they do not release the names of researchers who order cell lines so PRISMS will not be able to learn where the cell lines are sent.