Sophie Hambleton is a clinician scientist who leads the Primary Immunodeficiency Group at Newcastle University and the Genomics England Clinical Interpretation Partnership for Immune Disorders. She also plays an active part in the paediatric immunology service at the Great North Children’s Hospital, Newcastle upon Tyne.
Sophie interspersed clinical training in paediatric immunology and infectious diseases (Oxford, Birmingham, Newcastle) with basic research in molecular immunology (Oxford) and herpesvirology (Columbia, USA). Sophie’s research concerns the molecular basis of novel inborn errors of the immune system, with a focus on susceptibility to intracellular pathogens and immune dysregulation.
The PID group’s discoveries include the first examples of dendritic cell deficiency in humans, isolated viral susceptibility arising from defective type I interferon signalling and novel monogenic causes of complex autoimmunity in childhood. Current projects arise from the application of next generation sequencing to gene discovery in a large cohort of patients with suspected primary immunodeficiency.