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Biography

Cristina is a Clinician Scientist and Consultant in Clinical Genetics and Genomic Medicine. Her overarching research interest is in Rare Disease and Neurodevelopmental Disorders.

Cristina’s research focuses on understanding how gene mutations contribute to altered early brain development leading to intellectual developmental disorder (IDD) and learning disabilities. Specifically, her group aims to understand the role of chromatin remodellers in neurodevelopment and the mechanisms by which their dysfunction cause IDD.

In collaboration with The Francis Crick Institute, Cristina uses human neural stem cell models to interrogate these mechanisms in vitro. Aligned with this, Cristina leads a clinical study – BUILD (BAF complex & related genes underlying intellectual disability) - a collaboration between Great Ormond Street Hospital, the Francis Crick Institute, and King’s College London. The study aims to provide a deeper understanding of these conditions, clinically and biologically.

Additional interests include the application of novel and multimodal technologies in the identification of causes and mechanisms of rare disease. In this field, Cristina works in collaborations with others to determine the aetiology of agenesis of the corpus callosum and Aicardi Syndrome.