David FitzPatrick is Professor and Group Leader at MRC Human Genetics Unit. Able to adopt and adapt new technologies, he has made a series of seminal disease gene discoveries based on structural disruption of the genome.|His clinical observational skills led him to identify and integrate novel genes into interactive networks implicated in chromatin organization as underlying causes of the genetically heterogeneous multi-system Cornelia de Lange syndrome. He proved that CDLs can also present in patients mosaic for NIPBL mutations or interactors. This finding clarified diagnoses and recurrence risks for families and clinical guidelines based on his cohort studies have improved disease management.