In partnership with the Global Down Syndrome Foundation, NICHD recently hosted a conference to explore ways of establishing a comprehensive system of patient registries, research databases and bio-banks to meet the needs of people with Down syndrome and their families.
A patient registry is a voluntary database in which patients provide information about their condition, typically in a computerized, electronic format. Bio-banks, or tissue banks, store biological samples such as blood or DNA for later use in studies.
The NICHD conference explored development of a comprehensive online registry where people with Down syndrome and their families who are interested in participating in research or treatment studies could register. Patient records and other clinical information could be stored in a research database. Researchers interested in learning more about Down syndrome and in designing studies to treat the condition could then have ready access to the information. The research database could then be linked to a biobank, where donated samples, such as various cells and tissues, would be stored. Researchers undertaking clinical studies could alert prospective volunteers through the registry. They also could share the data they collect in the research database, which would be available on a secure basis and with provisions to maintain patient confidentiality.
“The question now up for discussion is not whether a Down syndrome patient registry, research database and bio-bank will be created, but how,” said NICHD deputy director Dr. Yvonne Maddox. “This conference will lead to plans for the future, the advancement of Down syndrome research and the improvement of the lives of people with Down syndrome and others affected by this condition.”
Down syndrome, also called trisomy 21, is a set of mental and physical symptoms resulting from an extra copy of chromosome 21. Symptoms can range from mild to severe and usually involve delays in mental and physical development. People with Down syndrome may also have heart problems at birth, thyroid dysfunction, hearing loss, Alzheimer’s disease and other health problems.
NICHD has issued two Requests for Information from the research community about how a Down syndrome research database and bio-bank could be structured.