New Therapeutic Avenue for Rare Pediatric Diseases by Angela Mohan on February 10, 2021 at 2:19 PM
Scientists have devised a new approach for detecting and potentially heading off the effects of two rare pediatric diseases named Beckwith-Wiedemann syndrome and Silver-Russell syndrome before birth, as per the study performed in mouse models of the diseases and published in
Cell Reports.
Both diseases result in growth-related symptoms in children and often lead to additional problems later in life, such as increased cancer risk from Beckwith-Wiedemann syndrome and increased metabolic disease risk from Silver-Russell syndrome. Both of these diseases have lifelong consequences, said Piroska Szabó, Ph.D., an associate professor at Van Andel Institute and the study s corresponding author. Our findings provide a critical foundation for additional studies that we hope will translate into new, life-changing prenatal detection and treatment methods. Our goal is