RDPlatform project shares the fruits of its labour in a new report on rare disease research in Europe
A new report, prepared in the context of the RareDiseasePlatform project (RDPlatform), a three-year support action project of the European Union's Seventh Framework Programme (HEALTH-F2-2008-201230) that ran from May 2008 through April 2011, sheds light on where research and development (R&D) in the field of rare diseases has been - and where it needs to go next.
The Report on Rare Disease Research, Its Determinants in Europe and the Way Forward presents a compilation of data gathered within the RDPlatform project. As such it offers readers an inventory of publicly-funded research initiatives on the national and international levels in the field of rare diseases and orphan drugs. The data, accessible on pan-European rare disease and orphan drug informational portal Orphanet, encompasses ongoing research projects, clinical trials, and registries. Other areas covered in the report include testing, therapeutic development, and R&D determinants (such as prevalence and medical area). The rare disease ontologies, data repositories and bioinformatic tools are given special emphasis in the report.
Breaking activities down by country, the RDPlatform report provides a snapshot of national, multi-national and EU project involvement for over 30 countries. The policy decisions that supported the research actions are outlined, including European-level policies. This information can be instructive to countries developing their own measures in the field of rare diseases and orphan drugs. The report also considers possible future actions to more efficiently build upon what has already been accomplished. Duplication of effort is a luxury the rare disease community cannot afford!
The Report on Rare Disease Research, Its Determinants in Europe and the Way Forward adds to a growing toolbox of resources designed to help move rare disease and orphan drug research forward as productively as possible. Drafted by experts from the RDPlatform project, the report was reviewed by a large number of stakeholders and discussed at a workshop earlier this year. Together with the Rare Diseases and Orphan Products report produced late last year by the Institute of Medicine in the USA (learn more) the RDPlatform report will serve as a roadmap at the upcoming meeting of the recently-formed International Rare Disease Research Consortium (IRDiRC) taking place in Canada next month.
Consult the report
In Switzerland, a Federal Court decision of 23 November, 2010 sided with an insurance company refusing to pay for rare disease therapy considered too expensive. A television documentary followed by a debate revisiting the decision was aired in Switzerland on 31 August. Rare disease and orphan drug portal 
A free-access article appearing in Clinical Endocrinology provides guidance on the initial evaluation of an infant or adolescence with a suspected disorder of sexual development. Although written as a United Kingdom-based guidance, save certain details and resources, the recommendations included are almost universally applicable. These include the need for adequate levels of expertise to recognise disorders - especially knowledge of the less common sex development disorders; the need to work in the framework of a multi-disciplinary team; the role of biochemical and genetic diagnostic tools, and their limitations in XY disorders of sexual development; a discussion of specific groups of diseases; and the goal of assessment as a support tool for the patient and family, for assigning a sex of rearing, and as a means of eliminating possible medical problems. The guidance also evokes the utility of networks and registries to support clinicians, and support groups and psychological services to support the patient and parents. 
In the USA, the Genetic Alliance has launched Baby’s First Test, a new resource designed to enhance the understanding of newborn screening and aid decision making for both parents and professionals. 
