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.

Antibiotic resistance (ABR) is a phenomenon described since the discovery of the first antibiotics. In the euphoria of the golden age of antibiotics, this central problem remained hidden for a long time. Today, ABR is one of the central public health issues of the 21st century. Indeed, available projections estimate that by 2050, overall 10 million people could die each year from the consequences of ABR. In light of these figures, understanding the complexity of its determinants, as well as the delay in the fight against RBA appears crucial. ABR is a global problem, and it is intrinsically a geopolitical issue at the heart of the major challenges of our time. Understanding it from this perspective would enable us to better control this phenomenon. Antibiotics occupy a unique place among anti-infectives. They are indeed societal drugs that play a very special role in our therapeutic arsenal. Along with vaccination and the development of hygiene, antibiotics constitute one of the cornerstones of modern medicine. Without antibiotics, complex surgery is impossible, as are solid organ transplants, resuscitation, and treatment of oncological patients. What is more, prescribing antibiotics is the responsibility of all doctors, whatever their field of practice, and it may at times be the responsibility of non-physicians. Owing to its ubiquitous nature, the treatment of ABR should be a central concern. This article sought to cover ABR by analyzing both its determinants and the response lines that are emerging.

Given that health is considered “the silence of organs”, let’s open our ears. Following a psychiatric expertise in the emergency room, a dementia post-Percheron’s stroke was diagnosed. In this context, the authors asked themselves whether stigmatization had played a potential role in the difficulty of establishing the diagnosis. The authors thus attempted to highlight its existence, in addition to its link with mental related issues and its consequences, while also providing suggestions for prevention. Understanding this condition is critical to be in a better position to face it and improve the healthcare quality. In this article, the authors have also stressed the importance of a good partnership between psychiatrists and physicians.