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Europe Drops $190M into Rare Disease Research Projects

NEW YORK (GenomeWeb News) – The European Commission said today that it has pumped €144 million ($188 million) into a number of new research projects that will target rare diseases, including 'omics-centered studies and efforts to understand the genetic diseases and develop personalized strategies for treating and managing them.

The funding will support 26 research projects in 29 countries and involve more than 300 participants at academic institutions and patients' groups and in the business community who will share knowledge and resources to address rare diseases.

A number of these wide-ranging projects will support the International Rare Diseases Research Consortium, an initiative launched by the EC, the National Institutes of Health, and other partners that seek to deliver 200 therapies and diagnostics for rare diseases by the year 2020.

"Most rare diseases affect children and most of them are devastating genetic disorders resulting in greatly reduced quality of life and premature death," Máire Geoghegan-Quinn, European Commissioner for Research, Innovation, and Science, said in a statement today.

Although these rare diseases by definition are not common — they each affect less than one in 2,000 people — they include such a variety of diseases that taken together they impact around 30 million people in Europe.

Rare disease research efforts require cooperation across Europe because the individual member states of the European Union do not have enough knowledge and expertise in certain diseases and there may be a low number of patients in each country.

Research into rare diseases may benefit medicine more broadly by allowing these less common diseases to serve as models for ones that are more prevalent and by making advances in personalized medicine that later could be applied to other diseases.

One of the new projects, led by the University of Cork, will receive €6 million to develop a sensitive and economically viable high-throughput screening test for pre-eclampsia that could be used early in pregnancy.

The Improved Pregnancy Outcomes by Early Detection consortium will seek to use mass spectrometry methods developed by its members to identify blood-borne proteomic and metabolomic biomarkers that could be used in such a test.

A €12 million award will fund the European Consortium for High-Throughput Research in Rare Kidney Diseases (EURenOmics), which will use data from 10,000-patients from established consortia to develop new diagnostics tools, biomarkers, and screening strategies for new therapeutic agents.

The EURenOmics partners, led by Heidelberg University, will try to identify genetic and epigenetic causes and modifiers of diseases and their pathways, develop new tools for rapid diagnostic testing, discover and validate new biomarkers for disease activity, prognosis, and treatment responses, and develop in vitro and in vivo disease models and apply high-throughput screening.

Another €12 million award will fund an effort headed by the University of Tubingen called the Neuromics consortium seeking to develop new diagnostics and treatments for neuromuscular and neurodegenerative diseases.

The Neuromics consortium will use next-generation whole-exome sequencing to discover new gene loci linked to these diseases and use large-scale genotyping, sequencing, and phenotyping to expand the size of patient cohorts. They also plan to develop biomarkers for use in clinical applications and for stratifying cohorts.

A full list of the rare disease research projects is available here.