To read on Anna’s Angels Foundation website:
Down syndrome Registry/Repository Project – BioBank 3 year funded project
The Duke Down Syndrome Research Team proposes the development of a data registry and human tissue sample repository (blood and urine). For Down syndrome, clinical and epidemiological research is limited by very small numbers of cases and hard to find cases exhibiting a particular set of characteristics for investigation. A comprehensive collection of data and information in registries is an essential precondition to improve this situation (Pommerening et al, 2008). Within the United States, there are approximately 67 specialty centers providing for the unique medical needs of individuals with Down syndrome. Currently, only about one half of these centers participate in any kind of Down syndrome research. (Results of survey conducted as part of the Duke registry planning grant funded by Anna’s Angels)
For this 3-year initiative, tissue samples would be collected from individuals with Down syndrome recruited from the Duke Down Syndrome Clinic. The tissue samples would be stored within the Division of Medical Genetics, Department of Pediatrics to support molecular-based research in Down syndrome.
Tissue repositories require input from individuals with expertise spanning biology; informatics and information technology infrastructure; laboratory operations; and law/ethics. The Duke Down Syndrome Research Team, in conjunction with Duke translational research efforts, is uniquely qualified to establish a registry/repository that can serve as a national model for registries and repositories in Down syndrome research. Additionally, the registry/repository will benefit from national initiatives, led by cancer and heart researchers and the National Institutes of Health, to create a national distributed biobank for use by researchers throughout the country. By partnering with this national initiative, Down syndrome has the potential to establish a leadership role in the establishment of registries/repositories for rare diseases. The Duke registry/tissue repository will be committed to patients’ rights, while simultaneously serving the needs of biomedical researchers at Duke.
Among the registry/repository activities will be:
- Working in the Duke Down syndrome clinic to recruit donors and support them through the informed consent process. Such recruitment also involves coordination with the Duke Institutional Review Board to ensure that research protocols provide the full scope of donor protection.
- Interfacing with the DS clinic to collect tissues during various patient visits and getting those materials to the repository. Similarly, the repository provides systems and support to collect the donor’s clinical information from the medical record. That information is then formatted for storage in the secure computer servers of the registry/repository.
- Operating a registry/repository with full logistical support, including transportation, various types and temperatures of storage capability, pathology review, molecular biology laboratories, and procedures to receive, manage, and distribute tissue specimens.
- Supporting the Division of Medical Genetics processing laboratory to extract molecular components from tissues (such as DNA and RNA) and add these derivatives to the biobank’s inventory.
- Providing scientists with secure, non-patient identifying access to the inventory of specimens and data so that they can request materials that support their research protocols.