Ribosomal pathologies: mechanistic therapy of Shwachman-Diamond syndrome

Objective: This research aims to find new treatments for Shwachman-Diamond syndrome (SDS), a rare genetic disorder that affects multiple body systems including the pancreas and bone marrow. We plan to target a protein called eIF6 that plays a key role in cellular function. Background: SDS belongs to a group of diseases called ribosomopathies, which are caused by problems with the cell's protein-making machinery. Previous studies have shown that adjusting eIF6 activity can help reduce SDS symptoms. eIF6 is important because it controls how cells produce proteins, which is essential for normal cell function. Research Plan: 1. Study eIF6 Controllers: Identify what naturally controls eIF6 activity to find new treatment targets. 2. Find eIF6 Drugs: Discover small molecules that can modify eIF6 function as potential medicines. Expected Outcomes: Successfully adjusting eIF6 activity could provide a new treatment approach for SDS patients. This research may also help us understand related ribosomopathies and develop broader therapeutic strategies.