Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder involving multiple organ systems and affecting children and young adults. Characteristic clinical features include exocrine pancreatic insufficiency, neurocognitive dysfunction, bone marrow failure, and leukemia predisposition. Additional organ systems, such as skeletal, hepatic, cardiac, immunologic, and dental systems, may also be affected. With the recent identification of the SBDS gene - a novel, highly conserved gene encoding a protein of unknown function - investigations into SBDS function have constituted an active area of scientific research. SBDS has been suggested to function in ribosome biogenesis, adding to the recently growing body of evidence implicating ribosome dysfunction in marrow failure and cancer predisposition.
This biannual Congress - the only multidisciplinary forum devoted specifically to SDS - will explore the most important recent advances in our understanding of the clinical features, current management, and treatment of SDS, and the molecular function of SBDS in hematopoiesis, leukemogenesis, and organogenesis, via a series of plenary lectures, poster sessions, interactive panel discussions, and workshops.
