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 has teamed 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 (NIH) and several private foundations with specific support by the National Institute of General Medical Sciences (NIGMS).
Learn more about the cell repositories at Coriell and how you can participate here.
Families who want to participate in this research effort can contact the NIGMS Human Genetic Cell Repository via email at firstname.lastname@example.org.
Families living outside of the United States are also welcome to donate a sample to the repository. All interested in families will need to sign the Coriell consent forms in order to have their samples in the repository.
For your preview, you can download and view the following sample documents:
For additional information about donating blood and/or skin samples, please download and view the following documents:
While research of Smith-Magenis Syndrome is slowly moving forward on several fronts, there is a need for more expansive study of the neuroscience of SMS. This specific type of research is reliant on brain donation. Learn more.