Rare Disease Day 2020 will be celebrated this year on Saturday the 29th of February - a fittingly rare date! Coordinated by EURORDIS in partnership with National Alliances, the aim is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. Lead-up events throughout the month will be organised by members of the rare disease community including patient organisations, healthcare professionals, researchers, and policymakers across 101 countries.

Rare diseases will affect 1 in 20 people in their lifetime, but their rarity often leads to delays in diagnosis, and means that information and treatment options can be limited. Rare Disease Day is an opportunity to strengthen international cooperation, vital for identifying and classifying these diseases, coordinating research, and providing access to treatment and support for patients, their families, and carers.

For more information, go to the Rare Disease Day 2020 website.

 

The European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established by Solve-RD – an EU-funded research project. The overall aim is to boost research in rare diseases, discover new disease-causing genes and obtain evidence for pathogenicity through functional validation.

For more information, visit the following website.

Orphanet unveils a new website to mark its 20th year

Orphanet unveils a new website to mark its 20th year

Orphanet (www.orpha.net) is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHA number), essential in improving the visibility of rare diseases in health and research information systems.

Orphanet was established in France by the INSERM (French National Institute for Health and Medical Research) in 1997. This initiative became a European endeavour from 2000, supported by grants from the European Commission: Orphanet has gradually grown to a Consortium of 40 countries, within Europe and across the globe.

To mark its 20th anniversary, the Orphanet website is undergoing a complete makeover, starting with the look and feel of the site.

The new site is designed be easier to navigate and read, with simplified search options and a responsive design. Orphanet called on the expertise of the digital communications agency Addictic for this makeover.

The Orphanet team hopes that the new format will make the data in Orphanet easier to find for its different audiences. Further evolutions to improve the way data is searched and displayed will follow later in the year. Users’ feedback will be sought in the next annual Orphanet satisfaction survey.

E-Rare 2012 - Created by Toussaint Biger