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Professor Sophie Hambleton

Variant Discovery and Clinical Interpretation lead

Sophie Hambleton is a clinician scientist who leads the Primary Immunodeficiency Group at Newcastle University and plays an active part in the paediatric immunology service at the Great North Children's Hospital. Sophie’s research concerns the molecular mechanisms of novel inborn errors of the immune system, together with their treatment. The 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 and combined immunodeficiency in childhood. Now, she will lead our Variant Discovery and Clinical Interpretation community, which seeks to expedite rare disease diagnosis through genomic research.

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