Developmental Disorders and Paediatric Pathology
Foetal pathology is an under researched area with developmental biologists studying model organism embryology.
- One of the few specialist medical foetal pathology programmes in the UK is run by the Edinburgh Royal Infirmary.
- A leader in the UK-wide project “Deciphering Developmental Disorders” (DDD), the MRC Human Genetic Unit is using whole genome and exome sequencing to identify the causes of human developmental diseases.
- Over 400 new cases of paediatric developmental disease per year are identified by the Regional Clinical Genetics Service, based at the MRC Institute of Genetics and Cancer, many of which feed into the DDD project. Adoption of exome/genome sequencing of patients as a diagnostic tool is a valuable investigative tool.
- Linking genetic change identified in these patients with pathology, via mouse and other models, is an important step.
A unique opportunity exists to exploit the link between the many mouse developmental biologists with human foetal pathology in Edinburgh.