ACVR1 – the link between FOP and DIPG

Background What is the link between a rare genetic disease that causes soft tissues to turn to bone, and a lethal childhood brain cancer? At first glance, with such different clinical phenotypes, it seems unlikely there could be any link, but it has been shown through whole genome sequencing of diffuse intrinsic pontine glioma (DIPG) Read More …

Project overview: Understanding the pathogenic mechanism of ACVR1/ALK2 mutations

Hello world! I think I should let you know about the two diseases my project covers before we get started:  Firstly, diffuse intrinsic pontine glioma (DIPG for short) is a childhood brain tumour that grows in a part of the brainstem called the pons. The disease progresses rapidly and the fact that it grows within the brainstem, and invades into nearby Read More …