title: CEMARA an information system for rare diseases.
abstract: Rare diseases cover a group of conditions characterized by a low prevalence, affecting less than 1 in 2,000 people; 5000 to 7000 rare diseases have been currently identified in Europe. Most diseases do not have any curative treatment. They represent thus an important public health concern. CEMARA is based on a n-tier architecture. Its main objective is to collect continuous and complete records of patients with rare diseases, and their follow-up through a web-based Information System, and to analyse the epidemiological patterns. In France, 41 out of 131 labelled Reference Centres (RC) are sharing CEMARA. Presently 56,593 cases have been registered by more than 850 health care professionals belonging to 171 clinical sites. The national demand of care was explored in relation with the offer of care in order to reach an improved match. Within 2 years, CEMARA stimulated sharing a common platform, a common ontology with Orphanet and initiating new cohorts of rare diseases for improving patient care and research.
authors.affiliation: Paris Descartes University, Faculty of Medicine, AP-HP, EA 4067, Department of biostatistics and computer sciences, and Department of genetics, Dermatology unit Necker-Enfants Malades Hospital, Paris, France.
authors.forename: Paul
authors.initials: P
authors.lastname: Landais
authors.forename: Claude
authors.initials: C
authors.lastname: Messiaen
authors.forename: Ana
authors.initials: A
authors.lastname: Rath
authors.forename: Loïc
authors.initials: L
authors.lastname: Le Mignot
authors.forename: Eric
authors.initials: E
authors.lastname: Dufour
authors.forename: Mohamed
authors.initials: M
authors.lastname: Ben Said
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Jais
authors.forename: Laurent
authors.initials: L
authors.lastname: Toubiana
authors.forename: Geneviève
authors.initials: G
authors.lastname: Baujat
authors.forename: Eva
authors.initials: E
authors.lastname: Bourdon-Lanoy
authors.forename: Marion
authors.initials: M
authors.lastname: Gérard-Blanluet
authors.forename: Christine
authors.initials: C
authors.lastname: Bodemer
authors.forename: Rémi
authors.initials: R
authors.lastname: Salomon
authors.forename: Ségolène
authors.initials: S
authors.lastname: Aymé
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
mesh_terms: D003628:Database Management Systems; D016208:Databases, Factual; D005602:France; D006801:Humans; D016247:Information Storage and Retrieval / Q000379:methods*; D016347:Medical Records Systems, Computerized; D015995:Prevalence; D035583:Rare Diseases / Q000453:epidemiology*; D018571:Sentinel Surveillance