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

E-Rare NEWSLETTER April 2013

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ERA-Net for Research Programmes on Rare Diseases
E-Rare NEWSLETTER April 2013

Ethical Aspects of Exome and Whole Genome Sequencing Studies in Rare Diseases

Recently research in rare diseases has been energized by the rapid expansion of new genomic technologies such as whole exome (WES) and whole genome (WGS) sequencing studies to unravel unknown molecular basis of many rare diseases. As a result, researchers are learning more about genetic basis and mechanisms involved in rare diseases, and part of these results is already translated as diagnostic tools for the best benefit of patients. On the other hand new generation sequencing approaches generate unequalled amounts of bioinformatics data, which include many known and unknown genetic variants, and among them those that are outside the focus of the study. Thus, these research studies can uncover facts relevant to a volunteer’s/patient’s health, stressing the important question of duty to return individual genetic research results to participants. This issue has rapidly gained in urgency in view of emerging small and large-scale biobanks as well as the use of collections of biological specimens, and stored genomic data, for research. As a consequence the feasibility of obtaining valid informed consent for research has become even more problematic.

As a part of its 2010-2014 programme, the E-Rare Consortium engaged the discussion on ethical and legal implication of large-scale exome/genome sequencing in the context of research on rare diseases by organizing a workshop on "Ethical aspects of exome and whole genome sequencing studies in rare diseases".

The main Objectives of the Workshop were to:

  • Review the nature and content of informed consent for patients with rare diseases in the era of WES and WGS studies
  • Capture the European initiatives for harmonizing policies and legal frames for informed consent

The workshop was organized on the 14 of January 2013 in Tel Aviv, Israel by the Chief Scientist Office of the Health Ministry of Israel, a member of E-Rare Consortium and gathered top-level specialists in ethics, law and genome/exome sequencing applied to rare diseases. The programme, biographies and videos of all lectures of the workshop are now available on our website. 

See the programme and discover the videos of the workshop

E-Rare recently joined Facebook community. Our page will be dedicated to all E-Rare, European and international events related to rare diseases. You can also use it to ask questions about E-Rare calls or European rare diseases research funding.

Start now: Join our network, discuss, collaborate and share!

www.e-rare.eu contact@erare.eu

E-Rare 2012 - Created by Toussaint Biger