“Obstacles can be daunting”

Anne Gregor is a postdoc at the University Clinic for Human Genetics at Inselspital Bern. | Illustration: Klub Galopp

Those diseases officially deemed to be ‘rare’ occur highly infrequently, and they place a heavy burden on any family that’s affected. But there are many different types of these diseases, which means they collectively represent a major strain on our healthcare systems. In most cases to date, therapies only deal with the symptoms or can at best play a supportive role.

In my research group at Inselspital Bern, we’re now testing drug repurposing. This involves testing medicines that have already been approved for other diseases. Such an approach has the advantage of reducing development costs significantly by eliminating the need for large-scale safety studies. We’ve now succeeded under laboratory conditions in identifying a new therapeutic option for a group of such rare diseases that includes various types of cognitive developmental disorder. They all share similar causes at the molecular level.

But even when we’ve successfully identified potential drugs, the path to clinical use in patients themselves remains a challenge. The families affected are naturally keen to see clinical trials begin as soon as possible. But there are many hurdles to overcome. Especially in cases of diseases involving cognitive impairment, it’s often difficult to determine just how to measure the actual impact of a drug. What’s more, the regulatory hurdles are particularly high when you’re dealing with minors.

The very small number of people affected means that alternative, decentralised, international study designs are needed, some of which require approval from different authorities in different countries. And since the patents for these drugs have often already expired, pharmaceutical companies have little interest in such studies, while traditional funding mechanisms in an academic setting offer little support. So there’s often a funding gap for applied research.

To a young researcher, all these obstacles together can initially seem daunting. But it’s also incredibly motivating to help shape new developments and to live in hopes of improving the lives of many affected families in the long term.