In the largest ever study of PSC a global team of investigators have studied the genes that contribute to why someone develops PSC. This work is of huge importance to all interested in developing new therapies for patients with PSC, and has understandably generated a lot of excitement for patients and clinicians.
First and foremost it reflects an enormous effort on the part of patients and investigators to collect DNA samples from so many people with PSC across the world. This in its own right demonstrates how it is possible to make progress in understanding a rare disease, by multiple groups working together. It is hoped this will continue in the future, with patient organisations such as PSC Support.
Secondly the genetic findings are striking, for identifying new immune genes that are associated with the risk of developing PSC. Collectively with prior genetic studies, this latest work contributes enormously to the slow but steady effort to piece together the puzzle of why a patient gets PSC/colitis. If medical researchers can better understand this, then it is hoped they can better design new therapies to treat the disease more directly. Efforts will continue to discover more genes associated with PSC, but more importantly to model experimentally how they actually contribute to PSC itself.
If you’re interested, the genetics paper can be accessed at Nature Genetics. A brand new state of the art review will also very soon appear in the medical journal The Lancet on PSC, which brings together all the latest advances in disease understanding.
We’re still some distance from proven PSC therapies or a cure but it finally feels like there is real momentum and increasing understanding of the mechanisms of this horrible disease.