The genetic and molecular basis of disease is fundamental to our understanding of disease processes, in guiding management and in counselling and diagnosing family members.
Research within this theme includes:
- identification of novel gene defects
- improved rapid genetic diagnosis of disease
- genotype phenotype correlation
- prenatal diagnosis
- newborn screening
- screening for genetic defects
As a major children’s hospital and tertiary paediatric referral centre, we see large numbers of patients across all departments who suffer from inherited disorders arising predominantly from single gene defects and chromosomal abnormalities.
There is great emphasis on identifying novel genetic defects, translating research findings into new diagnostic tests and offering more patients a precise molecular diagnosis.
The hospital already has a successful portfolio of genetic-based research, but many groups of similar patients remain undiagnosed. Grouped together, they provide a unique opportunity to identify new gene defects.
Find out more about the Biomedical Research Centre.
