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.

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

 

E-Rare associates with Blackswan Foundation to co-organize 4th International Congress on Reaserch of Rare and Orphan Diseases - RE(ACT) 2018.

The congress will take place from 7-10 of March 2018 in Bologna, Italy.

 

European Medicines Agency has published the final guidance document for applicants to Horizon 2020 topic “New therapies for rare diseases” on the EMA website. Find more information HERE

Call for projects on Rare Diseases for Whole Exome Sequencing

Call for projects on Rare Diseases for Whole Exome Sequencing

BBMRI- LPC (Biobanking and Biomolecular Resources Research Infrastructure – Large Prospective Cohorts) is one of the largest biobanking networks in Europe aiming to facilitate scientists’ access to large prospective study sets on human health and disease. The 2016 BBMRI – LPC Whole Exome Sequencing (WES) Call is offering a unique opportunity to genetically diagnose rare disease patients with samples deposited in Biobanks from the EuroBioBank network.

The program will provide free-of-charge Whole Exome Sequencing (WES) and bioinformatics analysis for a total of 500 samples, including rare disease patients and their relatives, from 10-30 coordinated projects. The sequencing and analysis will be carried out at CNAG-CRG and at the Wellcome Trust Sanger Institute (WTSI).

With this call BBMRI-LPC wants to promote the utilization of cutting-edge next-generation sequencing technology for the identification of novel causative variants and genes and to molecularly diagnose rare disease patients. BBMRI-LPC also wants to promote biobanking for rare diseases, the use of rare diseases biobanks and responsible data sharing.

The deadline for submission is on July 25th 2016

Find more information HERE

E-Rare 2012 - Created by Toussaint Biger