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.

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.

A call on research and innovation's actions will be launched on July 18, 2019. IMI projects aim at accelerating the medicines development process, generating new scientific insights, and developing resources for open use by the research community. The topics of this call are related to integrated research platforms, digital clinical trials, immune-mediated diseases, medicines safety, brain disorders, blockchain, antimicrobial resistance.

FInd more information on the following link.

The International Summer School on Rare Disease Registries and FAIRification of Data is a part of a series of training activities proposed by the European Joint Programme on Rare Diseases (EJP RD) which will take place at the Istituto Superiore di Sanità, Rome, Italy. The first module “Rare Disease Registries” starts on September 23 till September 25, 2019. The second module “FAIRification of data”, starts on September 26 till September 27, 2019.

Onlne registration deadline is June 20th, 2019.

Find more information on the following link.

The European Joint Programme on Rare Diseases (EJP RD), which is the successor of E-Rare launches the Joint Transnational Call 2019. The call will  open officially in December. This year projects should focus on accelerated diagnosis and/or exploration of disease progression and mechanisms of rare diseases. More info under www.ejprarediseases.org

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