Transforming our understanding of lymphoedema

Joint funding with MRC: Deep phenotyping to improve understanding of causal mechanisms and underlying gene mutations in primary lymphoedema and lymphatic malformations.

Lymphoedema is the swelling of any part of the body caused by a fault or obstruction in the lymphatic system, which is a network of tissues and organs that help rid the body of toxins, waste and other unwanted materials. It also transports lymph, a fluid containing infection fighting immune cells, around the body. Primary lymphoedema is often caused by genetic mutations, and therefore tends to run in families. It is often painful and progressive and currently there is no cure. Despite estimates that it affects around 800,000 people in the UK, it is poorly understood and is a neglected area of healthcare. As well as finding more culprit genes, the team hopes to transform understanding of the condition by carrying out detailed studies. They will examine exactly how genetic mutations cause faults in lymph nodes and lymphatic vessels. They will carry out intricate analysis of patient skin biopsies to assess the effects on tiny capillaries that drain fluid from tissues. And they will use a combination of imaging techniques to study the vessels that transport lymph up the limbs. The team will reveal how faulty genes cause distinct malformations in the lymphatic system, and the exact nature of these changes. Their work will increase our understanding of the underlying mechanisms of lymphoedema, and improve the recognition, care and treatment of people who live with the condition.