Banking for the Future: How Biobanking Helps the Rare Disease Community

By: Tara Schmidlen, MS LCGC, Genetic Counselor, NIGMS Human Genetic Cell Repository, Coriell Institute for Medical Research, Camden, NJ USA

A biobank (sometimes called a repository) is a bank that collects, stores, and distributes biological samples, like blood, tissue, cell lines or DNA for use in research. A biobank also collects and stores medical information about sample donors. There are many different types of biobanks. Some focus only on a single disease while others may focus on a group of diseases like cancers or muscular dystrophies. Some biobanks are large, publicly accessible collections of samples. Others may be small, privately funded collections that are only available to specific researchers. Both public and private biobanks are valuable for research. A key advantage of public biobanks is the ability for all scientists to use the samples, which accelerates research and promotes collaboration. Samples from the NIGMS Repository at the Coriell Institute, a large public biobank started in 1972 and funded by the NIH, have been used by thousands of scientists in over 60 countries around the world.

Public biobanks have become a key money and time saving resource for scientists. It takes a lot of effort, money and time for scientists to find a group of people with a rare disease and collect samples and medical information from each person, each time a new study is planned. Biobanks provide scientists with a central source of high quality biological samples, which is critical to get the most out of the limited funds and resources scientists and rare disease researchers often have for research.

Samples in biobanks can be used for a variety of research purposes, including: discovery of new genes, studying how cells from individuals with genetic diseases or chromosomal abnormalities function, developing new ways to detect genetic diseases or chromosomal abnormalities, and the development and testing of potential treatments or cures. When you donate a sample to a biobank, you are providing scientists with a valuable opportunity to learn more about your specific disease experience and how your genetic make-up influences the symptoms and behaviors associated with your disease.

Individuals who participate in biobanks by donating a blood or tissue sample have helped improve our understanding of genetics and medicine. They have also made the development of exciting scientific technologies, like induced pluripotent or “man-made” stem (iPS) cells possible. iPS cells are stem cells that are made by taking human tissue (like skin cells) and re-programming the cells back to an undifferentiated or “blank-slate” state. These “blank-slate” iPS cells can be directed to develop into any cell type (like nerve cells, heart cells, or brain cells). iPS cells are a valuable research tool and can be used for disease modeling, drug screening, tissue generation, and cell-based therapies.

Patients and families affected by rare diseases are often eager to participate in research or contribute to science in some way, but may have limited options due to the lack of clinical trials or studies on rare diseases. One way that patients and families can directly support and make research into genetic diseases and chromosomal abnormalities possible is by donating a sample to a public research biobank like the NIGMS Repository at the Coriell Institute. Interested sample donors may contact Tara Schmidlen, MS, LCGC, Genetic Counselor for the NIGMS Repository, at 1-856-757-4822 or [email protected] to see if they are eligible to participate and to learn more about this opportunity.

Stay tuned for Part 2 of this biobanking blog series to learn more about iPS cells and other ways that biobanks support research and build awareness for the rare disease community!

About The Author | Tara Schmidlen

Tara Schmidlen, MS LCGC is a licensed board certified genetic counselor experienced in research biobanking, personalized medicine, pharmacogenomics, complex disease genetics, and telephone-based genetic counseling.Tara has been working at the Coriell Institute for Medical Research since 2008 and has been a genetic counselor since 2006. Learn more here.