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

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 November 2013

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ERA-Net for Research Programmes on Rare Diseases
E-Rare Newsletter November 2013

On the 5th of December 2013 E-Rare will officialy open its 6th Joint Transnational Call for Research Projects on Rare Diseases (JTC 2014). The following 16 countries intend to participate in this call: Austria, Belgium (Flanders), Canada (including Québec), France, Germany, Hungary, Israel, Italy, Latvia, Poland, Portugal, Romania, Spain, Switzerland, The Netherlands and Turkey.

This year the call is specifically dedicated to development of innovative therapeutic approaches for rare diseases. The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition (a seriously debilitating and/or life-threatening disease affecting not more than 5 in 10.000 people). Therapeutic approaches can include: cell based therapy; gene therapy and pharmacological therapy. 

Please note that the final decision about the participation of different countries may be still pending. The preannouncement will be updated on E-Rare website as soon as their commitment to the call is confirmed.

In December 2012 E-Rare launched its 5th Joint Call For European Research Projects On Rare Diseases (JTC 2013). Seventeen research-funding bodies joined this call: Austria, Belgium, Canada (including Québec) France, Germany, Hungary, Israel, Italy, Poland, Portugal, Romania, Spain, Switzerland and Turkey.

Transnational research proposals needed to cover at least one of the following areas:

Definition of new nosological entities, epidemiological studies, genotype/phenotype correlations, natural history of diseases

  • Characterization of the genetic/molecular basis of specific diseases
  • Pathophysiological and genetic studies of rare diseases
  • Diagnostic and therapeutic research (interventional clinical trials were excluded).
  • Patient oriented research in the area of social and human sciences

The process included a two-step submission and evaluation procedure.

In the first step a total of 165 eligible pre-proposals were submitted. After careful examination by the Scientific Evaluation Committee (SEC), 55 pre-proposals were selected for full submission. Each of the full proposals was then evaluated by at least two additional external experts whose reviews were sent to project coordinators in order to give them the opportunity of studying the assessments and commenting on experts' arguments and evaluations. Both inputs were taken into account in a second SEC meeting.

Following the second SEC evaluation and ranking of the best projects,12 consortia with a foreseen budget of about 10 Mio € were selected for funding.

The funded projects cover a wide range of rare diseases including hematologic, metabolic, neurologic and dermatologic diseases as well as congenital malformations while addressing potential therapeutic options using state-of-the-art techniques like pluripotent stem cells, gene therapy and customized animal models.

The main objective of the RE(ACT) Initiative is to facilitate and accelerate the delivery of new molecules and therapies for millions of patients affected by rare and orphan diseases and to create innovation in this sector.

The RE(ACT) Initiative pursue this goal through the RE(ACT) Congress that is organised every two years and brings together world leaders and young scientists from stem cell, cell biology, gene therapy, human genetic, or therapeutic applications to present state-of-the-art research, to discuss results and to exchange ideas but also through a new challenge: the first online community for knowledge sharing and crowdfunding called the RE(ACT) Community.

The community will facilitate continuous collaboration between researchers on projects, as well as communication amongst patients and between patients and researchers, information gathering, identification of new funding mechanisms for research, and opportunities to optimise synergies between stakeholders from patient organisations to academic institutions, centres of expertise, health industry, regulators and policy makers.

Participate and help in building up of RE(ACT) Community!

Answer to the survey HERE and share it within your network!


Rare Diseases and Orphan Drugs Journal (RARE Journal) is a new international open access, online, peer-reviewed journal published three times per year, with no publishing fees.

The mission of RARE Journal is to provide an advanced forum on important aspects of public health, health policy and clinical research in ways that will improve health care and outcomes for persons suffering from rare diseases, as well as globally increase rare diseases experience sharing. It serves the international rare diseases community by publishing high-quality articles from epidemiology, public health, health economics, social sciences, ethics and law, with a special accent on rare diseases best practices guidelines, rare diseases research recommendations, and rare diseases epidemiological reports.

Take the opportunity and publish your article - the call for paper submission is now online!

E-Rare 2012 - Created by Toussaint Biger