Cristina is a Reader in Genomics and Neurodevelopment at King’s College London, a Clinician Scientist and Consultant in Clinical Genetics and Genomic Medicine. Her overarching research interest is in Rare Disease and Neurodevelopmental Disorders (RDND).
Cristina’s RDND Lab focuses on understanding how gene mutations contribute to altered early brain development leading to intellectual developmental disorder (IDD) and learning disabilities. Specifically, Cristina's group aims to understand the role of chromatin remodellers in neurodevelopment and the mechanisms by which their dysfunction cause IDD, and to interrogate these mechanisms in the lab using patient-derived and engineered human induced pluripotent stem cells and foetal tissue for in vitro exploration of normal and altered human neurodevelopment. Aligned with Cristina’s translational focus, she also leads clinical research in human neurodevelopmental disorders associated with chromatin regulation.
Additional interests include the application of novel computational and multimodal technologies in the identification of causes and mechanisms of rare conditions. Her group uses characterisation of patient cohorts to inform human biology while improving knowledge and management for patients and families with rare conditions.
Cristina is founder and chair of the King’s Health Partners Rare Disease Network, a cross-cutting clinical academic integration theme aimed at fostering scale and impact of rare disease research by fostering collaborations between researchers, clinicians, patient organisations and industry.
