Publication of June-July-August 2022

Approximately 7,000 rare diseases, defined by their prevalence of less than 5 per 10,000 in the community, have been identified. These diseases, most often of genetic origin, collectively affect 5-8% of the European population, or 25-30 million people. In Belgium, it is estimated that around 700,000 people have a rare disease, with often severe clinical, social and economic consequences. The diagnosis and management of rare diseases requires a concentration of expertise in highly specialised centres, working in concert with hospital networks and health professionals. Within Cliniques universitaires Saint-Luc (CUSL), the Institute of Rare Diseases (IMR) coordinates some thirty centres of reference for rare diseases, involving more than 15,000 patients and 300 health professionals. Fifteen of the CUSL centres are part of the European Reference Networks (ERNs), officially validated and supported by the European Community. Patients and their treating physicians often find themselves at a loss when faced with rare diseases and the difficulties they entail. The setting up of multidisciplinary networks bringing together a critical mass of medical, biological and technical expertise and the recruitment of a sufficient number of patients are essential to optimise the management of these diseases. One of the key missions of the CUSL Rare Disease Institute is to establish an information and support programme for patients, their families and health professionals. It is within this framework that the RMI organised a symposium on Friday 3 June 2002 on the theme of innovation in the field of rare diseases. Speakers from Belgian and foreign centres covered a wide interdisciplinary field, from basic research to clinical practice, genetics, therapeutic innovation, drug repositioning, the use of artificial intelligence and medical data, as well as ethical and economic aspects and, of course, the views and expectations of patients. As you will read in the following pages, the presentations of this symposium have shown a tremendous momentum in the holistic management of rare diseases. This momentum is irreversible and is part of the global awareness of the medical and societal importance of these diseases.

Vascular malformations are rare diseases that result from disturbances in the angiogenesis process. These malformations are subdivided into capillary, lymphatic, venous, arteriovenous, and mixed malformations, according to the type of affected vessels. Until a few years ago, therapeutic options were limited to sclerotherapy or surgery, but these latter treatments were only rarely curative in nature or often not feasible. The majority of vascular malformations are caused by inherited or somatic mutations in various genes. Of note is that these mutations are similar to oncogenic mutations detected in cancer conditions, causing hyperactivity of essential signaling pathways, including the MAPK and PI3K/AKT/mTOR cascades. In this article, we have highlighted the role of targeted molecular inhibitors as possible therapies for vascular anomalies via repurposing of anticancer drugs.