My work focuses in the characterization and further understanding of the biological role of atypical sphingolipids (atypical SL) in health and disease. Atypical SLs lack the OH group at the position C1 of their sphingoid base compared to the canonical sphingolipids. Elevated levels of atypical SLs were found directly associated with the development and progression of HSAN1 and diabetes type II. Nevertheless, they are also found in residual amounts in normal individuals. Despite their importance, the molecular mechanisms underlying their pathological role, as well as their biological significance, remain elusive.