Towards novel treatments for primary lymphedema: from identification of genetic causes to in vivo modeling and preclinical trials
lymphoedema • genetics • bioinformatics
Miikka Vikkula is professor at the Université catholique de Louvain. His research at the de Duve Institute aims to identify and characterise genetic variants that cause certain human diseases. This projects draws on the results of Mikka Vikkula’s previous WELBIO projects, focusing on anomalies of the vascular system, more specifically primary lymphoedema, a chronic, debilitating disease that results from the abnormal development and/or functioning of the lymphatic system. The lymph is not evacuated from the interstitial tissue and accumulates, most commonly in the lower limbs. This causes dilatation and fibrosis, and increases the risk of secondary infection. Lymphoedema affects more than one million people in Europe. There is currently no cure available.
This project aims to identify and characterise genetic causes of lymphoedema. It is not limited to monogenic causes, but also identifying digenic mutations that will be investigated by developing statistical, computational and machine-learning methods. The mechanisms whereby these mutations induce lymphoedema will be studied in murine models, which will also be used to develop pre-clinical models for testing treatment strategies.