Krill Prize Laureate 2018
Deciphering unique metabolic changes in complex diseases for diagnosis and treatment
As a physician- scientist- geneticist, my researchchallenge is to untangle the genetic and metabolic alterations that lead to disease development, for diagnostic and therapeutic applications. To characterize the variables that differentiate healthy cells from the pathological ones, we use advanced genetic and metabolic systems that involve cell models, mice, and patient samples. By stably labeling metabolites, we are able to track the path of a specific metabolite in the healthy cell and compare it to the
corresponding path in the patient’s cell. Because multiple changes occur along disease course, we correlate our findings with samples from patients with inborn errors of metabolism (IEM), to dissect the direct consequences of a specific metabolic
aberration. Revealing a unique metabolic anomaly in patients, enables us to suggest diagnostic and therapeutic options, which identify and target specifically the
metabolic pathway that is essential for the pathological cell, thereby diagnosing, slowing down or even stopping the disease progression.