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.

10 years of E-Rare video: the project CLC & MLC project by Raul Estevez

10 years of E-Rare video: the project CLC & MLC project by Raul Estevez

At the occasion of the 10th anniversary of E-Rare, we are glad to share with you short movies on research projects funded by E-Rare.

In this video, Dr Raul Estevez explain the project CLC & MLC, ‘CLC chloride channels and Megalencephalic leukoencephalopathy: molecular mechanisms and therapeutics’.

E-Rare 2012 - Created by Toussaint Biger