Companies that sell genomic research tools such as microarrays and next-generation sequencing platforms stand to benefit from a new international effort to both uncover the causes of rare genetic diseases and to develop therapies for them.
The International Rare Disease Research Consortium, or IRDiRC, aims to develop diagnostics for every known rare disease by 2020, as well as therapies to treat 200 of them.
Spearheaded by the European Commission and the US National Institutes of Health, the IRDiRC met last week in Bethesda, Md., to discuss strategies for sequencing patients with these diseases, identifying biomarkers, and organizing clinical trials for potential therapies.
To support the efforts of the IRDiRC, the EC in July will launch a €100 million ($140 million) call for research proposals, Ruxandra Draghia-Akli, the EC's director of health research, told BioArray News this week.
Nigel Carter, the leader of the molecular cytogenetics team at the Wellcome Trust Sanger Institute, said that it is likely that both sequencing and arrays will be among the technologies favored in IRDiRC-related projects.
"I would imagine that sequencing, as it becomes faster and cheaper, is the most likely tool that will be applied for diagnosis of individual cases, but microarray technology will still have a role to play in targeted approaches such as population screening or prenatal diagnosis," Carter told BioArray News this week.
According to Draghia-Akli, the IRDiRC was established because there exists a "high unmet" need for diagnostics and therapies for rare diseases that are "not fully answered by the private sector."
This scarcity of patients and medical expertise "calls for a collaborative approach," she said, adding that an "international approach where resources could be structured towards common objectives would be of high added value."
While the NIH and EC are the two largest partners in the IRDiRC, the Canadian Institutes of Health Research, the Istituto Superiore di Sanità in Italy, the Instituto de Salud Carlos III of Spain, and others have also pledged to contribute resources toward the consortium's goals.
"Each participating funding agency will use its own funding procedures and resources to fund R&D contributing towards IRDiRC's objectives of developing diagnostics for all rare diseases and 200 new therapies by 2020," said Draghia-Akli. "By increased cooperation between research funders and research projects around the world, better coordination of resources and faster uptake of research results are expected," she added.
According to Draghia-Akli, after the European Commission receives research proposals later this year, projects supporting IRDiRC will be selected "following the standard procedure" for EC grants, such as "open competition and peer-review process followed by the establishment of a grant agreement." The first batch of such projects are expected to start their work in 2012, she said.
At the meeting in Bethesda, the IRDiRC adopted a mission statement, in which consortium members endorsed the group's goals. According to the statement, the group will next develop a scientific and policy framework to "guide the research activities and to foster collaboration among the stakeholders to systematically explore all the venues to accelerate the development of diagnostics and therapies for rare diseases." The next meeting of IRDiRC will take place in Montreal in October.
Draghia-Akli said that policies under development to support IRDiRC include the "harmonization and standardization of data and research results, access to data, best practices, communication, and intellectual property aspects."
As it moves ahead with its objectives, the IRDiRC will also draw on policies supporting other large-scale international initiatives, such as the International Cancer Genomic Consortium and the International Human Epigenome Consortium.
The Sanger's Carter said this week that he is "very supportive" of the initiative as in "many ways it mirrors and extends" what he and other UK researchers are trying to achieve in the Deciphering Developmental Disorders project.
As part of that five-year study, announced last month, researchers at the Sanger and the UK's National Health Service will use arrays to analyze the genomes of up to 12,000 children with physical and mental developmental problems and multiple birth malformations in the hopes of developing new means to diagnose and treat these disorders (BAN 3/29/2011).
Specifically, the project will make use of Agilent Technologies comparative genomic hybridization arrays and Illumina whole-genome, SNP-genotyping arrays to gather genetic information on enrolled patients. Ultimately, DDD researchers hope the data generated will allow clinicians to make more diagnoses and enable better treatment of children with disorders.
EC Chief Scientific Officer Jacques Remacle discussed the IRDiRC project at the Wellcome Trust's Genomic Disorders meeting last week. Carter helped to organize the conference.
"While developmental syndromes are often individually rare, together they represent a significant healthcare problem so more comprehensive screening tools and, more importantly, the promise of developing new therapies is a wonderful objective," Carter said this week of the IRDiRC. "I would imagine that at least in the initial rounds of funding [for IRDiRC-related projects] there will be many DDD-like proposals from other countries and consortia."
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