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Eliminating rare diseases
Date:1/24/2013

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  • Addressing rare neurodegenerative and neuromuscular disorders using next generation whole-exome sequencing Neuromics led by the University of Tbingen, Germany
  • Developing a global infrastructure to share the research of rare disease projects RD-Connect led by Newcastle University, UK
  • Supporting international rare disease collaboration through IRDiRC SUPPORT-IRDiRC led by INSERM, France

    The projects funded by the EU under the IRDiRC:

    EURenOmics (www.eurenomics.eu) focuses on rare kidney disorders and 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.

    Coordinator: Professor Franz Schaefer MD, Heidelberg University Medical Center, Germany

    Neuromics (www.rd-neuromics.eu) 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. Trend-setting for future EU projects, top scientists from the US, Canada, and Australia participate in the network.

    Coordinator: Professor Olaf Riess MD, Institute of Medical Genetics and Applied Genomics, University of Tbingen, Germany. Co-coordinators Professor Brunhilde Wirth, Institute of Human Genetics, Cologne, Germany, and Profes
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  • Contact: Karen Bidewell
    press.office@ncl.ac.uk
    44-019-122-27850
    Newcastle University
    Source:Eurekalert

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