Clinical and Molecular Analyses in Overgrowth Intellectual Disability syndromes (Musketeer Memo)

Research summary

The overgrowth intellectual disability (OGID) syndromes are a family of genetic conditions characterised by increased growth and an intellectual disability. In the last decade many different OGID syndrome genes have been identified. However, we do not understand the full range of OGID clinical associations, the long-term OGID syndrome complications and the cause of the approximately 50% of affected individuals without a genetic diagnosis. We aim to identify new genetic causes of OGID through: a) Interrogating next generation sequencing (NGS) data, obtained previously through the study's predecessor the Childhood Overgrowth Study and through the 100,000 Genomes Study b) Undertaking genome sequencing c) Undertaking cutting edge non-NGS molecular tests (such as RNA-seq analyses) We aim to improve our clinical understanding of the OGID syndromes by establishing the infrastructure to undertake clinical studies, harnessing family involvement, which will inform evidence-based management guidelines and prognostic advice provided to patients/families. We will do this through involvement with Clinical Geneticists and also through families and patients who themselves are invested in longitudinal studies.

Principal Investigator

Dr Debbie Shears

Contact us

Email: crndirectdeliveryteam@ouh.nhs.uk

IRAS number

258623