IRDiRC is pleased to announce that Dr Diego Ardigò has been elected the Chair of the Therapies Scientific Committee (TSC). Dr Ardigò is project leader of advanced therapy medicinal products (ATMP) and biologics at Chiesi Farmaceutici S.p.A. in Italy. Dr Ardigò will be replacing Mr Yann Le Cam, who is stepping down after serving a 3-year term and driving forth the establishment of several IRDiRC Task Forces. IRDiRC thanks Mr Le Cam for his commitment to IRDiRC, the TSC and patient voices, and we are pleased that he will continue to serve in the TSC.
On November 16, a workshop of IRDiRC’s Task Force on Data-Mining and Repurposing (DMR) took place in Barcelona, Spain, at the Barcelona Science Park. The purpose of this Task Force was to gather the expertise on data-mining and repurposing at global level and identify opportunities for collaborations, especially public/private ones, to speed up the exploitation of these new discovery tools. The workshop started with a discussion on the current state-of-the-art of the topics, quickly going over the major successes of data-mining and repurposing to date. The workshop continued with an evaluation on tools for assessing validity, followed by an analysis of in silico approaches versus experimental approaches. Important debate was also held on sharing strategies and improved data sharing to help focus limited resources. The workshop ended with a summary of the workshop discussions and recommendations.
More information on the DMR Task Force can be found here.
EURORDIS (Rare Diseases Europe), together with SWAN UK (the support group run by Genetic Alliance UK), the Wilhelm Foundation, Rare Voices Australia (RVA), the Canadian Organization for Rare Disorders (CORD), the Advocacy Service for Rare and Intractable Diseases’ stakeholders in Japan (ASrid) and the National Organization for Rare Disorders (NORD) jointly submit a list of recommendations to address the specific needs of patients without a diagnosis urging all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community.
Undiagnosed rare disease patients require the availability of a complete health and social care pathway in advance of receiving a diagnosis. Such care should promote their chances of receiving an accurate diagnosis in as efficient and timely way as possible, while ensuring that, until a diagnosis is made, they nevertheless receive the best possible health and social care. These recommendations also highlight the importance of promoting ethical and responsible international data sharing to help inform a clinical diagnosis, accelerate research into novel conditions and provide insights into disease mechanisms. Furthermore, knowledge and information sharing among all stakeholders should be optimally coordinated and fostered so that patients can access appropriate resources in a timely and efficient manner.
For more information
We invite you to join us at the 3rd conference of the International Rare Diseases Research Consortium (IRDiRC), which will take place February 8-9, 2017 in Paris, France at the conference center of Université Pierre et Marie Curie (UPMC) Jussieu.
A strong and exciting program has been put together, with 4 plenary sessions and 3 parallel sessions, featuring prominent international speakers. At a glance, the program will start by discussing the state of rare diseases research on a global scale, and will be followed by highlights of transformative efforts within the areas of foundational, diagnostics and therapeutics research. On the second day, new approaches to rare diseases research and trends in the field will be highlighted. The conference will close by discussing how to transform rare diseases research over the course of the next 10 years, including a panel discussion on the next set of IRDiRC goals for 2017-2027.
In addition to compelling talks, the 3rd IRDiRC Conference offers an array of networking opportunities for a diverse set of rare disease professionals and stakeholders from the rare disease world. Young investigators are encouraged to submit abstracts for oral and poster presentations.
Registration and abstract submission is now open, and the early registration rate is in effect until November 30, 2016. Reduced rates are available for trainees, patient advocates, and IRDiRC Scientific Committee and Task Force members.
For more information and registration, go to
In the World Health Organization Bulletin, an article addresses the future of funding access to orphan drugs. According to the article, European Medicines Agency recommended 89 different orphan medicinal products for marketing authorisation in Europe, by the end of 2015. However, many of these drugs are heavily priced to compensate for the research cost and lower market size.
According to the authors, while pricing and reimbursement is negotiated individually with pharmaceutical companies in each Member State in Europe, this is changing. Two European countries – Belgium and the Netherlands – have teamed up to negotiate the pricing of orphan drugs with pharmaceutical companies. A pilot project was scheduled to begin in 2016. Since the agreement was signed, several pharmaceutical companies have declared their willingness to cooperate in the pilot project. In September 2015, the Grand Duchy of Luxemburg joined the Belgium–Netherlands project and the health ministers of other EU countries have demonstrated their interest in the project.
The authors note that “this collaboration has a potential triple benefit: (i) for health system sustainability; (ii) for pharmaceutical companies; and (iii) for patients having a rare disease.”
Read the WHO Bulletin