INFEVERS SummaryINFEVERS or INternet periodic FEVERS website was developed as a specialist site to gather updated information on mutations responsible for hereditary inflammatory disorders: i.e. Familial Mediterranean Fever (FMF), TRAPS (TNF Receptor 1A Associated Syndrome), HIDS (HyperIgD Syndrome), MWS (Muckle-Wells Syndrome)/FCU (Familial Cold Urticaria)/CINCA (Chronic Infantile Neurological Cutaneous and Articular Syndrome). Contributors submit their novel mutations through a 3 step form. Depending on the disease concerned, a member of the editorial board is automatically solicited to overview and validate new submissions, via a special secured web interface. If accepted, the new mutation is available on the INFEVERS web site and the discoverer, who is informed by email, is credited by having his/her name and date of the discovery on the site. The INFEVERS gateway provides researchers and clinicians with a common access location for information on similar diseases, allowing a rapid overview of the corresponding genetic defects at a glance. Furthermore, it is interactive and extendable according to the latest genes discovered. Seven different diseases, each with their own database, are accessible from the main page. Entry to the database itself results in a table of results with each representing one polymorphism in one study. Details are given for the polymorphism name, its location within the gene, the kind of polymorphism, the sequence variant, the technique(s) used to identify/ genotype the polymorphisms, RFLP details, protein variant details, the functional consequences of the variant, functional tests, the number of controls, disease related symptoms, associated phenotype, ancestry origin, reference (with links to abstract or Medline citation if published), and input date.
| ||
Related websites: Main HuGENet site | Greece Coordinating Centre | Canada Coordinating Centre |
 |
|