North American edition of the RE(ACT) Congress 2019 to be held at the Sheraton Center Toronto Hotel in Toronto, Canada, from May 8-11 2019. This 5th edition, the first to be held in North America will include sessions on clinical trials and registries, generalizable rare disease therapeutic approaches, gene editing, cell & gene therapy, stem cells, genetically modified cell therapies/clinical applications of gene therapies indigenous populations and rare diseases, and patient-focused drug development. REGISTER NOW! 

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

28 February 2019 will be the twelfth international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities. The theme for Rare Disease Day 2019 is 'Bridging health and social care'.

For most people living with a rare disease, as well as their family members or carers, the reality of daily life can include any combination of the following: collecting and taking medicines, attending appointments, participating in physical therapy, using specialist equipment and accessing various social and community support services and respite care. Managing these care-related tasks alongside their usual daily activities such as work, school and leisure time can be challenging.

More information, HERE.

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