By: Tara Schmidlen, MS LCGC, Genetic Counselor, NIGMS Human Genetic Cell Repository, Coriell Institute for Medical Research, Camden, NJ USA
In Part 1 of this biobanking blog series we explained what biobanks do and how they help scientists save time and money by providing a central source of valuable, high quality biological samples, useful for a variety of research purposes. Biobanks have helped scientists learn a lot about how genes influence the way our cells work, how changes (mutations) in our genes influence diseases, and how to treat and one day possibly cure genetic diseases. Here, in Part 2, we will tell you more about how biobanks support research and help build awareness for the rare disease community!
One of the most exciting areas of research made possible using cell lines from biobanks is the development of induced pluripotent or “man-made” stem (iPS) cells. 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). This gives scientists more opportunity and easier access to study difficult to obtain human tissues. iPS cells also give scientists a better disease model to learn from, since animal models, like mice or dogs, do not always represent how human cells and tissues work. Using iPS cells as disease models can also improve the development of new drugs or therapies. A single skin biopsy can be made into an unlimited quantity of iPS cells, which gives scientists the ability to test several potential drugs at once. Using iPS cells, a scientist can test the effect of a promising drug directly on the target cells (like human muscle or nerve cells). If a drug has been developed using human iPS cells instead of an animal model, recruiting physicians and enough research subjects to conduct clinical trials would be easier. The better the quality of drug development testing, the more likely the drug is to obtain approval from the FDA, support from insurance companies, and the interest of potential manufacturers and distributors.
A source of unlimited cells is also of interest to scientists studying regenerative medicine. Research is underway to determine if iPS cells might be used to repair or replace damaged or defective body tissues or organs for a variety of diseases. For example, scientists have injected iPS cells into damaged heart tissue in mice and these transplanted “blank-slate” cells became heart cells, improving heart muscle function in the mice. While the use of iPS cells in tissue generation and cell therapy shows much promise, there are still many hurdles scientists must overcome. Before iPS cells can be used more broadly, scientists must ensure that these cells can be used safely in humans without creating tumors or other unwanted side effects and the benefits of iPS cell use must be able to be maintained over longer periods of time.
To maximize the potential usefulness of samples like iPS cell lines and to help build awareness of the unique research needs of the rare disease community, biobanks can work in partnership with patient registries. Patient registries organize and identify groups of patients with a given disease or group of related diseases. They gather important medical information about patients via periodically updated questionnaires and/or by requesting copies
of relevant medical records. Registry data on a given patient can be de-identified and linked via a numeric code to blood or tissue samples donated by the same patient to a research biobank, like the NIGMS Repository at the Coriell Institute. The combination of biological samples and detailed medical history data from several individuals with the same disease provides scientists with a very powerful research toolset. The use of biobank samples linked to registry data allows scientists the opportunity to learn more about your specific disease experience and how it changes over time, the influence of your genetic makeup on your disease, as well as the best ways to diagnose, treat and possibly even cure your disease.
Participating in a registry can help doctors and researchers to better describe a given disease, which can lead to improved diagnosis and better medical care overall. Registry data can be helpful in identifying areas of patient need for advocacy work and can identify medical topic areas that may need further research. Data registries can help connect patients and their families to clinical trials or other research participation opportunities and some registries allow the option for patients to request to be linked to similar patients for support.
Participation in both research biobanks and data registries directly increases the amount of data available to scientists, which is critical for advancing research and ultimately achieving better medical care for individuals with rare genetic diseases and chromosomal abnormalities.
Patients with rare genetic diseases or chromosomal abnormalities and their immediate family members can donate a sample to the NIGMS Repository at the Coriell Institute, a public research biobank. Interested sample donors may contact Tara Schmidlen, MS, LCGC, Genetic Counselor at 1-856-757-4822 or firstname.lastname@example.org to see if they are eligible to participate. The NIGMS Repository also welcomes the opportunity to work with new and existing patient registries to link registry data to samples banked at Coriell. Interested registry coordinators should contact NIGMS@coriell.org to learn more!