Public poll on genetic medicine
Conducted a large-scale national survey of public attitudes towards genetic and genomic medicine, personalised medicine & complex disease.
Hosted Dyscerne, a European diagnostic network of health professionals with specialist expertise in the diagnosis and management of dysmorphic syndromes.
The Target Study
Taken part in a collaboration to conduct the first prospective randomised controlled trial of a pharmacogenetic test in the NHS.
Published a new measure of empowerment for use as an outcome measure for clinical genetics services.
Comparative Genomic Hybridisation
Performed an economic analysis of a new technology to help identify the causes of undiagnosed learning and developmental disability in children.
Consensus clinical guidelines for management of rare conditions
With colleagues in the Regional Genetics Centre, developed consensus clinical guidelines for management of ten genetic conditions to improve healthcare delivery.
Integrating Care Pathways for People with Genetic Conditions
Projects to improve services for people with genetic conditions, to ensure their complex health needs are met effectively in Primary and Secondary care.
Ophthalmic Genetic Tests
A study to identify the information required to evaluate the economic impact of a genetic test for X-linked Retinitis Pigmentosa (RP).