Biobanks store biological samples to help scientists research certain diseases. Registries collect information from patients and standardize it, but no samples are stored. Which of these is best for rare disease research? Trick question. The answer is both.
A recent study examined 6 stand-alone rare disease biobanks, 14 stand-alone registries, and 9 registries which had an associated biobank. It found that the biobanks were essential for helping researchers learn more about the basics of these rare conditions. Biobanks helped to identify biomarkers, uncover novel genes, and helped researchers develop new therapies. What the biobanks couldn’t offer was a comprehensive data set. It also couldn’t show the natural history of conditions or how the conditions responded to clinical trials.
Both the basic research for conditions provided by biobanks, and the natural history of them provided by registries are important components of rare disease research.
In addition to better treatment options for rare disease patients, we need to improve the way we diagnosis rare diseases. The faster we can diagnosis, the faster we can begin treatment.
Diagnosis is improved when we better understand the early stages of illness. This is another reason why biological samples are so essential for research. However, without comprehensive data from real patients that registries provide, we can’t make much real progress either.
Not only are biobanks and registries so important for rare disease research and improved diagnosis, they can also help research progress for less-rare conditions. As an example, when researchers were studying familial hypercholesterolemia, a rare disease, they learned a lot more about the lDL-receptors in the disease. This research eventually led to to the discovery of a new drug therapy called statins, which is now used as a way to prevent heart disease.
With the data published in this study (you can read the complete analysis here), we can no longer deny the importance of biobanks or registries for rare disease research as a whole. Not only that, but these resources can improve outcomes for larger patient populations as well. It’s time for greater collaboration and improved rare disease research.