Project: Protein build-ups and TDP-43 in motor neuron disease
Life in the Lab
Protein build-ups are found in post-mortem brain of most MND cases and most often these build-ups are composed of TDP-43 proteins. In some patients, the disease is caused by mutations within the gene for TDP-43 but it remains poorly understood how these mutations cause the protein build-ups. TDP-43 regulates hundreds of genes in the brain, as has been shown by many laboratories, including that of Prof Jernej Ule.
I will investigate what effects these TDP-43 build-ups have on MN, but also what other proteins become entangled in these build-ups early in the disease.
This imbalance of protein factors leads to changes in gene expression. I will use human cell lines, including human Induced Pluripotent Stem Cells (iPSC) derived from patients with MND to study these questions. These studies will have implications for the design of novel therapeutics that hinder protein build-ups and their knock-on effects on the defective gene expression in MND.
Life outside the Lab
Camilla Højland Knudsen
Visiting PhD student