The Rare Disease and Neurodevelopmental Disorders Lab studies how genetic variation alters early human brain development and contributes rare neurodevelopmental conditions.

Our work focuses particularly on conditions caused by disruption of chromatin regulation, including mutations in chromatin remodellers, large protein complexes that control how the genome is organised and accessed by the cellular machinery that reads genetic information. By understanding how these mechanisms operate during normal and altered neurodevelopment, we aim to identify convergent biological pathways that can inform diagnosis, prognosis and future therapeutic development.

The lab combines clinical, molecular, cellular and computational approaches. We use deep phenotyping and cohort characterisation to understand the clinical spectrum of rare neurodevelopmental disorders and to develop well-characterised, research-ready patient cohorts. In parallel, we model human neurodevelopment using patient-derived and engineered human in vitro neurodevelopmental systems, allowing us to explore gene function and disease mechanisms in developmentally relevant contexts.

The RDND Lab also leads clinical research in neurodevelopmental disorders associated with chromatin regulation. We are particularly interested in novel computational approaches to characterisation of patient cohorts can inform human biology while improving diagnosis, management and support for patients and families living with rare conditions.

Student, postdoctoral and clinical fellow enquiries are welcome. Please contact Dr Cristina Dias if you are interested in joining the lab or collaborating with the group. While we attempt to respond to all queries, this is not always feasible.