Bioethics Blogs

Rare diseases need international research infrastructure

There are a few thousand diseases that you never heard the name of. They affect so few people and have no names in the common language.

These diseases are usually called rare diseases (or orphan diseases). They often (but not always) have genetic origin. They often affect children, are disabling and can even be life-threatening, and in many cases organ systems in the body degenerate.

Because the diseases are rare, they are difficult for doctors to diagnose. Even if one manages to make a diagnosis, treatments are often lacking. It’s hard to do research and develop treatments when the patient groups are small and scattered across the world.

In recent years one has begun to prioritize research on rare diseases, not least in the EU. A background to this trend is the development of biobank research. It starts to make it possible to do research on rare diseases, even though the patient groups are small and scattered across the world.

How? Since one can collect samples and data from such patient groups in biobanks that are linked with each other in international networks. Biobank networks thus give researchers access to large enough material to identify genetic and other origins of rare diseases. In this way, one can begin to develop diagnoses and treatments for small patient groups spread across the world.

In an article in the Journal of Biorepository Science for Applied Medicine,

twenty researchers, among them Mats G. Hansson, describe trends in research on rare diseases. They mention several international biobank networks developed to make such research possible, and describe the challenges that they have to deal with.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.