Half a million for cardiovascular anomalies research

The first Generet Award, which was launched this year, has gone to Professor Miikka Vikkula (de Duve Institute – UCLouvain) for his research seeking a genetic explanation for vascular anomalies. Prof. Vikkula collected his prize on 6 December 2018 at a ceremony attended by, among others, HRH Princess Astrid and Belgian Federal Minister of Public Health Dr Maggie De Block. The annual Generet Award aims to boost research into rare diseases in Belgium and consolidate our country's reputation as a centre of expertise. Each year, a leading scientist will walk off with this prize worth €500,000, an amount that may even be doubled subject to significant progress being made in the research.

The Generet Fund, managed by the King Baudouin Foundation, is committed to giving research into rare diseases a shot in the arm and making Belgium an international centre of expertise on rare diseases. To this end, for the next 20 years the Fund has decided to award an annual scientific prize worth €500,000 – a sum that may even be doubled following a excellent interim report. This immediately makes the Generet Award one of Belgium's leading biomedical research prizes. Both research focusing on a specific rare disease and research aimed at seeking an understanding of mechanisms that could aid progress with various rare conditions are eligible.

An international jury established by the Fund for Scientific Research (FNRS – Fond National pour la Recherche scientifique) in collaboration with FWO (Research Foundation - Flanders) made its selection from a field of 28 candidates, with Dr Orly Elpeleg from the Hebrew University Medical Centre in Jerusalem, chairing the jury, being very impressed by the quality of research into rare diseases in Belgium.

About the winner
The first winner of the Generet Award is Prof. Miikka Vikkula from the Human Genetics Laboratory at the de Duve Institute, the multidisciplinary biomedical research centre of the Faculty of Medicine at Université Catholique de Louvain (UCLouvain). The Generet Fund has awarded this prize to Prof. Vikkula in recognition of his research, stretching back almost 20 years now, into the genetic explanation of vascular anomalies. 

There are more than 40 variants of vascular anomalies, or malformations, of blood or lymph vessels. In their most benign form they occur as small spots on the skin, but for many patients more extensive malformations make it difficult for them to lead normal lives and cause them severe pain and other infections. For example, substantial bulges on children's hands can prevent them from writing for more than a couple of minutes. Some patients cannot sit or stand still for more than 20 minutes without pain. In particular those with malformations on exposed parts of their body such as their face are the victims of derogatory behaviour and discrimination.

Prof. Vikkula made a breakthrough almost 10 years ago when he identified a genetic disorder explaining one type of vascular anomalies. Over the years, he and his team have expanded their expertise to cover other types of vascular anomalies and have developed models for further research, with view to not only identifying an increasing number of genetic causes but also moving towards more effective treatment. For patients with an initial type of anomaly who have been treated as part of the research, there has now been a considerable improvement in their symptoms. Recently, the clinical trials for the first drug-based treatment were successfully completed at the Centre for Vascular anomalies of the Cliniques universitaires Saint-Luc. 

The research conducted by Prof. Vikkula and his team offers hope to patients with various types of vascular anomalies – patients he knows well, as the research team works closely with the Centre for Vascular Anomalies, where patients come for diagnosis and treatment, and he was also behind the establishment of the Vascular Anomaly Patient Association (VASCAPA).

Rare diseases
A disease is considered rare if it affects less than 1 person in 2,000. However, there are between 7,000 and 8,000 rare diseases, meaning that from 6% to 8% of the world's population is affected. In Belgium, this is equivalent to more than half a million people – people who, due to a lack of knowledge, often wait for long periods for an accurate diagnosis and any treatment, if this ever comes at all.

Brief biographical details
• 1965: Born in Espoo (Finland) 
• 1993-1997: Works as a post-doctoral fellow at Harvard Medical School in Boston (United States)
• 1997: Joins the de Duve Institute – UCLouvain and establishes a research group for human genetics
• 2009: Discovers the genetic cause of one group of vascular anomalies
• 2015: Demonstrates the efficacy of a specific drug-based treatment in enhancing the quality of life of patients with certain vascular anomalies
• 2018: The first winner of the Generet Award for Rare Diseases is announced

Prof. Miikka Vikkula is married to a Belgian who is also a specialist in medicine, coordinating the Centre for Vascular anomalies of the Cliniques universitaires Saint-Luc. They have one child. Prof. Vikkula has also taken Belgian citizenship.

Key figures
• €500,000 research budget associated with the Generet Award, which will be doubled following a positive interim report
• More than 40 types of vascular anomalies
• 1 in 5,000 people is affected by a vascular anomaly
• 15-20 researchers in Prof. Miikka Vikkula's team