16-07-2025
Sidra Medicine contributes to uncovering genetic cause of rare congenital disorder
Sidra Medicine, a member of Qatar Foundation, has contributed to a groundbreaking study that uncovers new genetic causes and disease mechanisms behind Ritscher-Schinzel Syndrome (RSS), a rare multi-system congenital disorder. The study, published in Science Translational Medicine, is one of the first from the region to identify the genetic basis of RSS, marking a significant advancement in the global understanding of this condition. Titled 'Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy,' the study was led by researchers from Sidra Medicine, the University of Bristol, and other global partners. It used genetic, cellular, proteomic, and animal model approaches to uncover how mutations in three genes, COMMD4, COMMD9, and CCDC93, are linked to RSS. Researchers studied newly identified patient groups, including three siblings from a consanguineous Arab family enrolled in Sidra Medicine's Mendelian and Metabolic disorders Translational Research a result of their collaboration, RSS is now recognized as a 'recyclinopathy,' a disorder caused by defects in cellular recycling. (QNA) page 16
