Rare Disease Research and Integrated Systems: 1+1=3

Rare disease data can be hard to come by…Really hard when there are fewer subjects to study compared to those in the general population. By their very nature, these data involve the need to be collected from more sparsely located subjects and researchers, and more data sources. Even then, there still might not be a lot of data to analyze; so the tools used to recognize patterns to find cures and treatments need to be even more robust.

When these more robust tools to analyze, visualize, and report on data are native to the system used for aggregating the data, we call this an “integrated research system.” Systems like these can even manage studies and experiments and biospecimen and are the wave of the future. More and more they are replacing the patchwork of different applications pieced together in the past, which have never worked as well in comparison and typically cost several times more (which is doubly good for underfunded rare disease research).

Of course sharing data has not always been the culture of medicine, as evident with the human genome where certain discoveries have been issued patents. But, as costs rise both in rare and common disease research, the cultural shift is growing towards global collaboration as a means of accelerating both non-profit and for-profit research breakthroughs, and emphasizing the benefits of 360-degree views of patients and diseases. When more breakthroughs occur faster, it allows for further collaboration in the private sector.

This is welcome news for all patients as long as privacy policies are adhered to regarding data, and as this era of increased collaboration ensues, it’s nice to know that we also now have the software to answer this challenge of connecting, for example, remote data input from subjects via the internet, a university research department in the eastern U.S., a leading hospital in California, and government researchers in Iceland. This is the future of research which is proving to be very exciting and inspirational.