Pioneering research

Detecting genetic diseases

Detecting genetic diseases

Generous donations have enabled Evelina London to buy innovative equipment that quickly detects inherited diseases in babies at birth.

Detecting genetic disorders

Every year, 800,000 babies are born in England, and 600 of them will have an inherited metabolic disease (IMD). Diseases of the metabolism can lead to dangerous imbalances of chemicals in children's bodies, which can lead to organ damage and disabilities as they grow.

But if these diseases can be detected early, we can make sure babies receives the right treatment and the best care as quickly as possible. Evelina London has led the way in the development of a state-of-the-art tool called a tandem mass spectrometer, which screens babies at birth. It allows experts to accurately measure molecules in the blood in one single test to detect specific disorders in newborns.

This rapid and accurate diagnosis means better treatment and care, increasing the chances of survival and normal childhood growth and development. 40% of newborn baby deaths are due to genetic disorders, so this machine is essential to saving children’s lives.

Helping children across the UK

Because of the work we've done, each baby born in the UK is screened so that treatment, if needed, can begin immediately. Donations have enabled us to buy two tandem mass spectrometers that are being used to quickly diagnose a range of inherited disease and critical organ failure in children and newborn babies. The equipment can screen for diseases that few other centres can screen for: as well as metabolic diseases, it can detect neurological, kidney, liver, heart and blood disorders.

Evelina London is the regional IMD service for the south Thames region, which covers south London, Kent, Sussex, Surrey and beyond. We have outreach clinics as far afield as Plymouth, Cambridge and Norwich. We see more than 300 new patients each year. Our doctors treat patients with all types of IMDs, from prognosis to acute and long-term disease management. 

We can continue to do more, to improve the health of our children, to do more research with support from people like you. Please support the work we're doing by making a donation to Evelina London today.