Sidra Medicine contributes to uncovering genetic cause of rare congenital disorder

Doha: Sidra Medicine, a member of Qatar Foundation, has contributed to a groundbreaking study that uncovers new genetic causes and disease mechanisms...

Doha: 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 Program. As a result of their collaboration, RSS is now recognized as a ‘recyclinopathy,’ a disorder caused by defects in cellular recycling.

Staff Scientist at Sidra Medicine, Dr. Aljazi Al-Maraghi said: “This research revealed multiple novel disease-causing genes in patients with RSS and uncovered how disruptions in a critical cellular system, known as the Commander complex, which is responsible for recycling proteins within cells, can lead to disease. When this system fails, essential proteins don’t reach the organs where they’re needed, resulting in impaired development of the brain, kidneys, and bones. Our joint efforts will help accelerate progress in understanding rare diseases laying the groundwork for the future development of therapeutic strategies.”

Chief Research Officer and Chair of the Precision Medicine Program at Sidra Medicine, Prof. Khalid Fakhro said: “This study demonstrates how our Mendelian and Metabolic disorders Program is transforming the landscape of genetic research and diagnosis in the region. By investigating families with rare conditions, particularly in communities with high rates of consanguinity, we are uncovering novel disease genes and mechanisms that were previously unknown. These discoveries provide long-awaited answers for families and strengthen Sidra Medicine’s role as a regional leader in genetic research through expanding international collaborations.”