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.

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