Modulation of Eukaryotic Initiation Factor 6 Activity as a Therapeutic Tool in Ribosome-Based Disease

Shwachman-Diamond syndrome is a multiorgan disorder caused by loss of function of the SBDS protein. It is genetically inherited and causes insufficiency of pancreatic function, skeletal abnormalities, and hematological disturbances. The severity of the disease is variable. Treatment is palliative, and patients are prone to develop blood cancers. Here we aim at finding new drugs that may cure Shwachman-Diamon syndrome, by targeting the action of eIF6 protein, which is a modulator of the function of the SBDS protein. In addition, we wish to pinpoint the mechanism by which SBDS depleted cells are prone to transformation into neoplastic cells and, eventually, discover specific cures for SDS patients who develop leukemya.