February 27, 2013
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 rare disease patients. Funded by the European Commission’s Seventh Framework Programme, objectives of these projects include finding new treatments for rare diseases and creating a “central global rare disease hub” that will help scientists from 70 institutions around the world to share their genomic research data.
Collating data from different sources is becoming an important aspect of genomic research, especially in the case of rare diseases. Recent advances in DNA sequencing technology makes it possible for an individual genome to be sequenced within days at a much lesser cost than before. However, interpreting these enormous quantities of genomic data can be challenging. According to Dr. Ségolène Aymé, 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, Member of IRDiRC Executive committee, 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 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 rare renal 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.