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Biography

Cristina is a Consultant in Clinical Geneticist and Genomic Medicine and Clinician Scientist. Her overarching research interest over the years has been the application of high throughput omics technologies in the identification of causes and mechanisms of rare disease.

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, she is leading 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 genetic aetiology of agenesis of the corpus callosum and Aicardi Syndrome.