Researchers at St George's have been awarded a major MRC programme grant, worth £2 million over five years, to investigate different causes of swelling of the extremities due to an underlying weakness in the lymphatic system, primary lymphoedema.

Led by Dr Pia Ostergaard, together with Professor Steve Jeffery and Professor Peter Mortimer from Molecular and Clinical Sciences Genetics, the group is a large collaboration between St George's and the Trust, including Professor Franklyn Howe (MCS Neuroscience), Derek Macallan (Institute of Infection and Immunity), and clinicians Dr Sahar Mansour and Dr Kristiana Gordon from the Trust's national Primary and Paediatric Lymphoedema clinic.

Dr Pia Ostergaard explained: "We've been working on separating out groups of lymphoedema patients for several years into smaller groups where we can then identify the specific gene fault associated with that specific condition. For example, one group of lymphoedema patients have learning difficulties and a small head, another group have an increased risk of developing leukaemia.

"Careful assessment of these different presentations has enabled us to find mistakes in eight new genes associated with the development of the lymphatics. What we want to do next is to identify other groups by using different methods of imaging such as MRI scanners or immuno-profiling on FACS machines, then go on to identify more genes and understand the underlying mechanisms.In the long term, this will hopefully lead to better treatment and management for these patients."

The project name is "Deep phenotyping to improve the understanding of causal mechanisms and underlying gene mutations in primary lymphoedema and lymphatic malformations.”

Dr Ostergaard added: "We're delighted that we have been awarded this grant which will help us to recruit staff for the project including a research coordinator and post-doctoral researchers."