New VUS call now open! Submit your Variant of Uncertain Significance today!

Part of the remit of the Congenital Anomalies Cluster is to help clinicians and researchers establish genetic diagnoses by modelling VUS in mice. Our submissions portal is open to clinicians and researchers worldwide.

Our Cluster will generate and study mouse models of prioritized gene variants identified from patients with congenital anomalies, focusing on anomalies affecting the cranial, neural, heart and kidney structures. For more information and to submit a VUS please follow this link. We will use genome engineering to mimic the human gene variants in mouse models, in order to assess the overall functional consequence of pathogenic mutations. The cluster will analyse and distribute these mutants, determine underlying causes, and collaborate with clinicians. A key objective is bringing together diverse experts studying syndromic disorders, as many genetic disorders affect multiple organ systems. A second objective is to improve live monitoring of animals in early life, which will improve our ability to link gene variation to function in structural malformations. The overall goal is to enhance UK expertise in determining causes, understanding mechanisms and identifying potential therapies for congenital anomalies.