Exploiting state-of-the-art mass spectrometry to identify blood-based biomarkers for TDP-43 driven MND

About the project

Clinical diagnosis of MND, a debilitating and fatal disease is often challenging and a protracted process (up to 1 year). This reflects lack of specific blood-based tests for early diagnosis and measuring/predicting disease progression. Recent studies have identified several small fragments of proteins called “cryptic peptides” that are present in brain samples from people living with MND (pwMND) but not healthy individuals. In this study, we aim to develop an improved test to identify/quantify the levels of those peptides that are present in the blood samples of pwMND. We will develop methods to accurately identify and measure them using an ultra-sensitive technique called mass spectrometry. Finally, we will verify MND-specific peptides in blood samples generously donated by pwMND to a large-scale biobank anchored in Edinburgh. Our efforts would result in the development of a simple blood-based test for MND and open new avenues for diagnosis and clinical management for pwMND.