Reducing the risk of developing blood cancer in children with Shwachman-Diamond syndrome

We have many proteins inside our cells that act as housekeepers, making sure cells continue running smoothly. Proteins have to be built and if they’re not built correctly, processes inside cells can go wrong which can lead to cancer.

However, it currently isn’t known exactly how this construction goes wrong, making it difficult to design new treatments to stop this from happening. In this project, the team want to understand this more.

Shwachman-Diamond syndrome (SDS) is a rare disorder that, among other things, can cause blood cancers such as myelodysplastic syndrome and acute myeloid leukaemia at a young age.

In this disorder, researchers have found out how protein construction goes wrong and now want to develop treatments to reverse this.

The team, who Blood Cancer UK have funded since 2003, will also use new, detailed techniques to study protein construction in the hope that this will reveal more about how it goes wrong and how we might be able to develop new treatments.

The hope is that this research will lead to more personalised treatments for people with SDS that reduces their risk of developing blood cancer. They hope to advance a treatment to a phase 1 clinical trial in the next few years.

The team think that this research could lead to developments in blood cancer not only for people with SDS, but more generally across other types of blood cancer.