Case Study: Discovery of a of Biomarker Biological Processes for a Rare Disease

In this case study, you'll see how Sapient analyzed samples from over 100 individuals from a rare disease population with sequence-verified mitochondrial disease and found specific small molecules that are altered in these patients. Learn how we validated a key biomarker in independent datasets of patients with mitochondrial disease to confirm its diagnostic value as a readout of mitochondrial dysfunction. You will also see how this rare disease biomarker maps onto common human diseases.