Quality assurance, variant interpretation and data management in the NGS diagnostic era, 12-14 October 2020.

Application deadline: 20 July 2020

More information from the EJP RD here.


The European Joint Programme on Rare Diseases (EJP RD) has published the pre-announcement for the Joint Transnational Call 2020. This call is for proposals on "Pre-Clinical Research to Develop Effective Therapies for Rare Diseases".

For more information please visit the EJP RD website: http://www.ejprarediseases.org/index.php/joint-transnational-calls/

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.

Undiagnosed Diseases Programme

Undiagnosed Diseases Programme

In April 2016 the Italian Telethon Foundation is launching a pilot project for the analysis of undiagnosed genetic diseases!

The Telethon Undiagnosed Diseases Program (UDP) pursues the goal of providing a diagnosis to pediatric patients with a genetic disease without a name. This task will be accomplished through collaboration among three Italian clinical centers in Rome, Monza and Naples, coordinated by the Telethon Institute of Genetics and Medicine (Tigem) in Pozzuoli – Naples, where the genetic analysis will take place.
Patients will access the program through their referring physician, who will fill in an online form on the dedicated Telethon UDP website. The requests will be evaluated by the Program’s clinical teams; where the absence of a diagnosis is confirmed, the patients will be examined in one of the three clinical centers. This medical examination might allow identifying a diagnosis; otherwise the patients will undergo whole exome sequencing (WES) through a “family trio” analysis. The outcome will be fed back to the patients via the direct involvement of their referring physicians.
The program will address 350-400 cases and aims at identifying the causative variants in at least 25-35% of isolated cases and in at least 40% of those with hereditary features, resolving a total of 100-120 cases. To the goal of identifying “second cases”, the Telethon UDP team will collaborate with international programs and will use internationally adopted tools and platforms, such as Phenotips, Phenome Central and MatchMakerExchange.
Not only will these results bring a diagnosis to patients and their families, but also they will set the basis for investigating their diseases to the aim of finding treatments and cures.

For more information: http://www.telethon.it/en

E-Rare 2012 - Created by Toussaint Biger