Institut de Duve Avenue Hippocrate 74 - B1.74.06 1200 Bruxelles
The Vikkula Lab studies the genetic variations underlying human diseases.
Achievements & Honors
Affiliations
Which DNA mutations predispose to or cause genetic diseases like vascular anomalies, lymphedema, cleft lip and palate, or cancer and how can we develop new therapies to target them?
The overarching aim of our research is to discover the genetic variations that drive human disease, and to understand how and why they do so. We study a variety of developmental disorders of the cardiovascular and skeletal systems, as well as certain cancers. The molecular mechanisms of many are not known, and current treatments are therefore broad-based and aimed at alleviating symptoms. Identification of the primary causes as well as modulating factors would greatly facilitate the development of more effective, less caustic treatments. Towards this goal, our laboratory combines a large bio-bank of patient blood and tissue samples associated with extensive clinical data, with large-scale genotyping data generated using cutting-edge Next Generation Sequencing techniques and a state-of-the-art data analysis pipeline developed in-house. Gene-discovery is followed by the generation of cell and animal models in which disruption of the culprit gene is used to recapitulate features of the human disease. These models are then used to study the molecular and biological consequences of disease causative genetic changes, as well as to test potential therapeutic solutions. All of our research begins with samples obtained from patients, and we aim to go full circle: from bed to bench-side back to bed, providing patients with viable and tangible knowledge-based improvements in their health-care.
Dr Vikkula, MD PhD (1992-93 Helsinki Finland), a professor of genetics, became interested in vascular anomalies at Harvard Medical School 1993-97, and unravelled key concepts in their pathophysiology: genes, second-hits and decisively somatic mutations (2009). He is at the forefront of developing targeted therapies. He has received numerous honours such as the Inbev-Baillet Latour Clinical Prize and the 1st Generet Award (2019). He is a Member of the Royal Belgian Academy of Medicine since 2012.
With Prof LM Boon, Co-ordinator of the Vascular Anomaly Center (Brussels), the couple discovered the TIE2 gene for familial venous malformation (1996), and since many others, and made the pivotal demonstration that somatic mutations explain sporadically occurring vascular anomalies (2009). With collaborative efforts to generate the first ever animal model for venous malformation, and its proof of concept treatment with rapamycin, a small molecular inhibitor.
Clinical trials are now being conducted with various molecules in various countries. Prof Vikkula is well-known internationally as a major contributor to the understanding of molecular basis of vascular anomalies and lymphedema with >160 peer-reviewed publications, >50 reviews and chapters in major medical text books, and >24000 citations with an H-index of 78 (Google scholar).