The theme for Rare Disease Day 2018, to take place on February, is Research. The emphasis will be on making a call to increase the involvement of patients in rare disease research. A day which, more than ever, is central to the work carried out at Inserm.
A disease is considered rare if it affects fewer than one in 2,000 people - i.e. generally several tens or hundreds of patients for a given condition. But the fact remains that while the diseases are rare, the patients themselves are not, given that 5,000 - 8,000 such diseases exist. In total, around 3 million people in France and 30 million in Europe live with a rare condition.
Since the 1990s and the advent of genetics, research has moved forward in terms of understanding, diagnosing and managing these often severe, chronic and progressive diseases. For some of them, major therapeutic advances have been achieved.
Inserm has always been active in this domain, and in several areas:
A multidisciplinary approach essential for progress
Rare diseases are highly heterogeneous. Approximately two-thirds of them manifest in childhood and as such are considered pediatric diseases. The majority are of genetic origin, while the others are rare cancers, auto-immune or infectious diseases. So all medical disciplines are concerned. When it comes to research, a multidisciplinary approach is required, bringing together research teams in genetics, immunology, physiopathology, human and social sciences… as well as of course clinical research teams.
Present across all of these research disciplines, from benchtop to bedside, Inserm actively contributes to furthering knowledge of these diseases and to developing approaches to improve patient health. In terms of visibility, the research of its teams into rare diseases have led to Inserm being ranked the world's fifth leading academic institution.
A dedicated service unit: Orphanet
Orphanet is the portal of reference for rare diseases and orphan drugs. A member of the Rare Disease Platform, it is coordinated by an Inserm team (service unit US14).
Established in France in 1997 to gather existing knowledge on rare diseases, this initiative has gradually grown to become a consortium of 40 countries, within Europe and across the globe. Orphanet contributes to the generation of knowledge and improves the visibility of rare diseases, particularly through the development of a common nomenclature (ORPHA codes) and by providing high-quality information and expertise to the various stakeholders.
With patients and for patients
At Inserm, patient associations are research partners in their own right. While patients need researchers to understand their diseases better and bring about advances in their treatment, researchers also need patients who can describe their illness, express their expectations and actively participate in research. A fact that is all the more significant when it comes to rare diseases.
To promote this dialog between associations and researchers and to facilitate their collaboration, Inserm deploys a number of initiatives and offers various tools for the associations, including support, training, and events.