Optimising transfection of the C2C12 myoblast cell line

Within a month (hopefully) I’ll be convincing C2C12 myoblast cells to express all kinds of mutant ALK2 to test its activity and interactions with other proteins within the cell. I’ll be doing this by treating them so that they’ll take up pieces of circular DNA (plasmids) that express those mutant proteins (i.e. transfecting them). Seeing Read More …

Project overview: Establishing Cellular Assays to Screen for ALK2 Inhibitors

Diffuse Intrinsic Pontine Glioma (DIPG) is a type of brain tumour in the brainstem which is highly aggressive and occurs in children. Treatment options for DIPG are very limited because these tumours do not respond to the chemotherapy drugs currently available for adult gliomas. Whole genome and exome sequencing identified several frequently mutated genes in Read More …

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 …