Promoting research

A brilliant new publication about UGDH variants is hot off the press in Matrix Biology. This study, out of the Simpson Lab at North Carolina State University, examined three novel UGDH variants and concluded they are indeed pathogenic. This data will support the diagnosis of patients with those variants, but the study accomplished even more along the way. Crucially, the team advanced the workflow for functionalizing variants of uncertain significance (VUS) by demonstrating a

World class clinicians and scientists as well as dedicated family and friends of patients with Jamuar syndrome will converge for presentations on • clinical features and genetics of Jamuar syndrome/UGDH-related disorder • relevant therapeutic approaches • state of natural history collection • updates from recent research and more! Day 1 on Thursday, May 21, will focus on the patient experience and clinical trial readiness. Day 2 on Friday, May 22, will focus on the latest res