Report on the First International Rare Disease Research Consortium conference and IRDiRC policy guidelines are now online
The International Rare Disease Research Consortium (IRDiRC) has posted its conference report which was held on 16-17 April 2013 in the city of Dublin, Ireland. They have also posted the IRDiRC policies and guidelines document which highlights the guidelines provided by the scientific committee members, to the IRDiRC members which includes researchers, patients and their representatives as well as funding bodies.
The IRDiRC conference attracted rare disease stakeholders with a common theme in mind: collaboration for furthering the cause of rare disease research. The goal of IRDiRC is to facilitate in providing 200 therapies for rare diseases by 2020 as well as means to diagnose all of them as delineated in the IRDiRC policies and guidelines document. The first IRDiRC conference has been the stepping stone towards achieving this goal and the conference report underscores this.
The conference report provides a detailed summary of the plenary session, which included presentations from Dr. Ruxandra Draghia from the European Commission, Dr. Christopher Austin from the National Institute of Health, Dr. Sharon Terry: chief executive of Genetic Alliance and Dr. Hans Schikan from the Dutch Biopharmaceutical company Prosensa. This diverse and international set of presenters set the stage for a stimulating and information packed event.
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The range of topics covered during the conference, was divided into three tracks: the therapies, diagnostics and interdisciplinary. This report provides an informative synopsis of presentations in each track and also accentuates the importance of these presentations in tying into the goals of IRDiRC. An outline of the closing plenary session, a captivating epilogue of this conference, with equally diverse opinions from a variety of thought leaders, including Dr. Paul Lasko, the current chair of IRDiRC, is also presented in the report. Conclusions from each track and recommendations on how the information presented can lead into fulfilling the goals of IRDiRC, augments the value of this document.You can also find the poster abstracts and presentations from the conference on the website.
The conference brought together many researchers and the success of the conference can be discerned by the fact that several initiatives to aid rare disease research are underway, since the conference.More details can be found on the website or by contacting IRDiRC.
Read the report on the IRDiRC website
Photo courtesy: Lensman Photographic Agency
It is against this background that the AFM-Téléthon (which has been developing a variety of innovative therapeutic approaches over the past 25 years) and the Fonds National d’Amorçage (FNA) (which provides funds towards innovative biotherapies and rare diseases) have moved closer to constitute the first seed fund dedicated to innovative biotherapies and rare diseases. This action forms part of an "Environmental, Social and Governance" process. 
The New Zealand government has allocated NZ$ 23 million for payments to families caring for disabled adult children. Although this comes as a welcome decision for the rare disease community in New Zealand, New Zealand Organisation of Rare Diseases (NZORD) have expressed concern over the narrow criteria adopted by their government and hopes to be included in future policy developments that affect carers of rare disease patients. 
An article published in Clinical Genetics has described the experience of women in the UK, at risk for delivering children with single gene disorders. This qualitative study showed that mothers preferred NIPD over invasive testing in all spectrum cases, from low to high risk, the reassurance provided by NIPD provided in the first trimester was considered far better. NIPD was also considered to be a good option for multiple pregnancies. However, the authors expressed concern that the women underestimated the “potential limits” to this approach. The authors ask that clear guidelines be made for these procedures so that ethical issues are taken care off. 
An article published in the Health Policy addresses how reimbursement decisions are determined. These decisions are full of uncertainity as many factors have to be considered during this time. The authors conclude that a cyclic approach to reimbursement is more useful than a single fixed decision making progress for long term value of money. They elucidated the case of the reimbursement of three expensive drugs imatinib, pegfilgrastim, adalimumab in Netherlands to demonstrate their point. The authors highlight that the uncertainity on all 3 factors effectiveness, cost-effectiveness and budget impact was substantial for all 3 drugs at the time of reimbursement decision. Although the authors believe that more evidence at the time of reimbursement decision making is more favourable, the inability of obtaining this evidence makes “a cyclic approach enhance(s) legitimacy of the system and may increase efficient allocation of resources”. 
Orphanet has extended its reach by launching the Dutch language Orphanet site. The translation of this site was one of the measures recommended by the Belgian Fund of Rare Diseases and Orphan Drugs (in 2011) that has already been implemented. The Belgian Scientific Institute of Public Health receives funding (for the period of 2012-2013) from the National Institute for Health and Disability Insurance (INAMI-RIZIV) for the translation of the Orphanet portal into the Dutch language (structural webpages, the lists with medical terms and scientific abstracts). By the end of 2013 around 500 abstracts are expected to be translated. The Dutch and Belgian Orphanet teams are working collaboratively to validate the translated lists of disease terms. Not only does this provide additional endorsement, it also ensures that certain Dutch synonyms relevant for the Netherlands (but not for Belgium) are included in the database.
