Multi-million Euro IRDirC projects launched in Barcelona
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EU has awarded nearly 40 million Euros to fund three ambitious projects under the IRDiRC (International Rare Disease Research Consortium) flagship. An official announcement was made in Barcelona on 25-27th January 2013, and is hailed as a significant step towards better care for the rare disease community. Funded by the European Commission’s Seventh Framework Programme, objectives of these projects include finding new treatments for rare diseases and to create a “central global rare disease hub” that will help scientists from 70 institutions, all over the world, to share their genomic research data. Combining and collating data is becoming an important aspect in genomic research, especially in cases of rare diseases. Recent advances in DNA sequencing technology makes it possible for an individual genome to be sequenced within days and at a much lesser cost than before. However, interpreting these enormous quantities of genomic data can be challenging. According to Dr. Segolene Ayme, coordinator of SUPPORT-IRDiRC, “Sequencing produces a vast amount of information but in most cases it will find hundreds of genetic changes in each person. We now need to collate the data internationally to discover which change- or combination of changes-actually causes the disease”. Pr Hanns Lochmüller, coordinator of one of the three projects, stressed “that sequencing is only the first part of the story. It doesn’t replace clinical expertise – in fact, being able to combine genetic data with clinical data is more important than ever. (…) To deliver concrete benefits to patients in terms of diagnosis and therapy development, the ability to link omics data with clinical data and biomaterials of individual patients or well-defined patient cohorts is crucial.” These IRDiRC projects aim to combine and collate genetic, clinical and biomaterial data “to help interpret the vast amounts of data the genome yields (which) will aid scientists in the search for genetic causes of diseases and help identify new ways to create targeted therapies”, Pr Paul Lasko, Chair of IRDiRC, has noted in a statement. IRDiRC has set a goal of delivering 200 new therapies for rare diseases and means to diagnose most rare diseases by 2020, commencement of these projects will greatly facilitate reaching this goal. It is simply a matter of time before personalised treatments for many of the rare diseases become a reality. The projects will interact closely with one another in sharing skills, experiences and infrastructure where possible and will share an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. The three funded projects are:
EURenOmics, which aims to identify novel genetic and epigenetic causes and modifiers of disease and their molecular pathways, develop innovative technologies allowing rapid diagnostic testing, discover and validate biomarkers of disease activity, prognosis and treatment responses, and develop in vitro and in vivo disease models to apply high-throughput drug candidate screening;
Neuromics, which addresses rare neurodegenerative and neuromuscular disorders and will use next generation whole-exome sequencing (WES) to increase the number of known gene loci, increase patient cohorts through large scale genotyping by gene panel enrichment and next generation sequencing, develop biomarkers for clinical application with a strong emphasis on presymptomatic utility and cohort stratification, identify disease modifiers and develop targeted therapies using latest generation genetic approaches; RD-Connect, which will develop a global infrastructure for sharing the research outputs of these and other rare disease projects, enabling scientists and clinicians worldwide to access a single centralized repository for omics data, phenotypic and biomaterial information.
The Scottish government has established a fund of £21 million in an effort to ensure equitable access to medication for rare disease patients. Drugs like Kalydeco, which made the top 50 FDA approved drug list, was rejected by the Scottish Medicines Consortium (SMC) due to its price and “low” performance. Additionally, a hearing at the Scottish parliament contented that the availability of drugs through Individual Patient treatment Requests (IPTR) is an “inequitable process”, wherein needs of the “more vulnerable” population such as rare disease patients are not addressed. This has resulted in an inability for rare disease patients to access these innovative drugs, approved by the EMA, due to their prohibitive costs. To circumvent this issue, the fund will ensure that “....the cost of successful new individual patient treatment requests for orphan medicines are met”. A review committee will meet in November 2013 to address the system at IPTR, meanwhile the £21 million fund will cover the cost of orphan drugs for patients until the review is complete.
The committee for the rare and intractable diseases in Japan recently generated a proposal for intractable disease for the Commission for Specific Disease Control under the Health Science Council. This proposal was accepted on 31 January 2013 and will be enacted into law by the Ministry of Health and Labour welfare. The objective of the proposal was to reform the current policies on intractable disease by o Improving the quality of the development of effective treatment methods
The Ministry of Health presented the first draft of the National Plan for Rare Diseases on 18 December during a meeting with the associations of rare patients and the ministry. This plan is the result of the recommendations of the EU council action on rare diseases, which asks EU countries to adopt in its territory an action plan for rare diseases by the end of 2013. In Italy, this project is lead by the Istituto Superiore di Sanità (IT). In 2011, the Ministry established an ad hoc committee for the definition of the plan. In April 2012 the committee's delivered a draft plan that was sent for an initial evaluation, before its presentation and public consultation on 18 December 2012. 
In a recent article in Healthcare Information Research on the development of the first web-based “Korean Rare Disease Knowledge Base (KRDK)”. “This knowledge base is comprised of disease summary and review, causal gene list, laboratory and clinic directory”. The database intends to add an orphan drug database to their repertoire. The website can be accessed at http://www.snubi.org/software/raredisease/ . Modelled on the genetic database- GeneTests (www.genetests.org), this database..... quick querying as well as preventing redundant data. The database uses Orphanet as the main resource for information on rare disease, genetic data and reviews. It contains “...520 rare disease entries and 48 disease reviews”. Confirming the name, address, service provided and other details established the national laboratory and clinic directory. The database only provides a summary of the patient registry - Bio Electronic Medical Record, as it is a de-identified patient registry. This database is also integrated with Genome Research Information Pipeline to provide all information relating to the gene.
A recent study found that although comprehensive predictive testing programmes for Huntinton disease is available in Canada free of cost, this service, may not be delivered to the patients in an equitable manner. The authors call for an improvement to the manner in which these services are delivered. They found that the major difficulty in reaching of accessing PT is the time commitment and travel involved to the clinic in Vancouver. Even those who lived close to Vancouver were stressed but the travel. Others reasons included that the length of the reimbursement process and the “ability to obtain and complete appropriate forms. They were often frustrated with the “length of the testing process”, they were unhappy with the “babying and handholding” which some did not appreciate during counselling and during the result sessions.
The online financial-services company-Motley fool encourages investing in orphan drugs as well as orphan drug developers. According to a recent 