Currently, I am developing algorithms for discovering biomarkers in ALS. Most cases of ALS are sporadic. We do not understand the cause of the disease well, and monitoring or diagnosing the disease is difficult because of a lack of a clear biological marker.
To solve this problem, we have developed an algorithm, CelFiE, that estimates the tissue of origin of DNA that ends up circulating in the blood (cfDNA). We have found that CelFiE estimates a higher proportion of cfDNA coming from skeletal muscle in ALS patients, consistent with what we would expect of their disease. We’re hoping to explore this result further in future work.
More details about our method can be found in our paper.