Our research group is trying to identify the inherited factors that might contribute to two conditions, both of which are understudied, with significant impact on individual’s health:
(1) Lymphoedema, the swelling of tissue caused by an accumulation of lymph fluid, and
(2) Lipoedema, a chronic condition characterized by an abnormal and symmetric build up of fat tissue in the legs and arms.
In the case of Primary Lymphoedema (PL), where there is an in-born weakness of the lymphatic system, there are a number of genes that have already been implicated in the development of the disease. We plan to explore if variation in these genes may cause milder lymphoedema in the wider population and explore what other health implications there may be for this set of individuals. Secondary lymphoedema occurs following damage to the lymphatic system and is a common complication of cancer treatments. At the moment, little is known as to why some people develop this condition and others do not. We plan to explore whether some people are more susceptible to this condition due to their genetics.
For Lipoedema, we aim to identify a set of participants in the UK biobank that have an abnormal body fat distribution and look for genetic variants that are more common in this population than in a general population.
An improved understanding of the genetics of these conditions will help us to explore the underlying biology of disease development, aid diagnosis, help clinicians to choose the most appropriate treatment options and identify new genetic targets for drug development.