Orphanet is the reference portal for information on rare diseases and orphan drugs for all audiences. Orphanet provides free and direct online access listing around 6,000 rare diseases, a classification of rare diseases elaborated using existing published expert classifications, a directory of specialised services, an inventory of orphan drugs, an ‘assistance to diagnosis’ tool, emergency guidelines, the EUCERD’s newsletter and the Orphanet Report Series.The Orphanet entry points for the UK (www.orphanet.co.uk) and Ireland (www.orphanet.ie) were launched on February and March 2011 respectively. They provide specific national information including: the Orphanet team and its Scientific Advisory Boards, collaborators, patient organisations and private not-for-profit funding bodies.The sources of information and inclusion criteria for the UK were recently added to clarify the registration process. Online registration forms for patient organisations, expert centres, research projects, clinical trials and registries have also been added to simplify and accelerate this process.Aiming to increase national awareness of rare diseases and the availability (or not) of services, we are now planning to add information about national activities; any patient organisation, funding body, research/clinical group, laboratory or other relevant stakeholder is invited to submit an article for publication on the national home page.We also aim to promote interaction between the Orphanet national team and the rare disease community (patients/families and/or professionals); work is underway to collect feedback from users, such as “like” buttons, “suggestions” fields, or gathering satisfaction levels on different national events or Orphanet-related matters.
|Publication status||Published - 9 Jun 2013|
|Event||European Society of Human Genetics Conference - Paris, France|
Duration: 8 Jun 2013 → 11 Jun 2013
|Conference||European Society of Human Genetics Conference|
|Period||8/06/13 → 11/06/13|
- Rare Disease
- Clinical Genetics