Identification of genes and mutations in genetic skeletal diseases leads to improved diagnosis and counselling through an international clinical and DNA diagnostic network

Narrative

Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of genetic diseases that affect the development of the skeleton. Although individually rare, as a group of related genetic diseases they have an overall prevalence of at least 1 per 4,000 children, which extrapolates to a minimum of 225,000 people in the European Union. This burden in pain and disability leads to poor quality of life and high healthcare costs. GSDs are difficult diseases to diagnose and there are currently no treatments, therefore, arriving at a confirmed diagnosis is vital for clinical management, psycho-social support and genetic counselling.
Research conducted at the University of Manchester (UoM) has had a major influence on establishing the correct diagnosis of specific GSDs by the discovery of causative genes and mutations and the subsequent development of accurate and reliable DNA testing protocols. This has significantly improved both accuracy of, and access to, genetic testing in the UK, Europe and worldwide.

Impact date	1996 → 2012
Category of impact	Health impacts, Economic impacts
Impact level	Benefit