10/16/2020 |  

Advancing the Study of Rare Genetic Disorder Shwachman-Diamond Syndrome

According to new findings published in JCI Insight, Departments of Cancer Biology and Pediatric Hematology & Oncology researchers have developed a novel preclinical model of Shwachman-Diamond syndrome (SDS), a rare inherited condition characterized by the inability to digest food properly, low white blood cell count and skeletal abnormalities. SDS is also a leukemia predisposition condition, increasing risk of developing myeloid neoplasia by a thousandfold.