Navigation Links
Eliminating rare diseases
Date:1/24/2013

ny
  • 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
    '/>"/>


  • Contact: Karen Bidewell
    press.office@ncl.ac.uk
    44-019-122-27850
    Newcastle University
    Source:Eurekalert

    Page: 1 2 3 4 5

    Related biology news :

    1. Eliminating useless information important to learning, making new memories
    2. An error-eliminating fix overcomes big problem in 3rd-gen genome sequencing
    3. Immune cell death defects linked to autoimmune diseases
    4. Stem cell materials could boost research into key diseases
    5. The findings between DNMs and autism provides global view of mutability on human diseases
    6. Transplanted genetically-modified adipose cells offer potential therapy for liver diseases
    7. Removing protein garbage in nerve cells may help control 2 neurodegenerative diseases
    8. Short DNA strands in the genome may be key to understanding human cognition and diseases
    9. Scientists question the designation of some emerging diseases
    10. Call for global monitoring of infectious diseases in dogs and cats
    11. Action needed to prevent more devastating tree diseases entering the UK
    Post Your Comments:
    *Name:
    *Comment:
    *Email:
    (Date:9/16/2014)... have discovered the "molecular brakes" that time the generation ... mice. These "hair cells" translate sound waves into electrical ... interpreted as sounds. If the arrangement of the cells ... of the research will be published in The ... proteins Hey1 and Hey2 act as brakes to prevent ...
    (Date:9/16/2014)... The meteorite impact that spelled doom for the dinosaurs ... flowering plants to a much greater extent than their ... researchers. The results are published in the journal ... a treasure trove of thousands of fossilized leaves of ... team was able to reconstruct the ecology of a ...
    (Date:9/16/2014)... Hesperides vessel returned to Spain culminating the around the ... clear picture of how the global ocean works and ... pollutants from the atmosphere is not limited to coastal ... of the planet, and it is already affecting the ... week in CSIC Residence for Researchers in Barcelona, in ...
    Breaking Biology News(10 mins):Hey1 and Hey2 ensure inner ear 'hair cells' are made at the right time, in the right place 2Meteorite that doomed dinosaurs remade forests 2Meteorite that doomed dinosaurs remade forests 3Meteorite that doomed dinosaurs remade forests 4The Malaspina Expedition confirms that pollution reaches even the most remote areas of the ocean 2The Malaspina Expedition confirms that pollution reaches even the most remote areas of the ocean 3
    ... seafood, the options are many and so are some of the ... healthy? Is it safe? Is it endangered? While there are many ... an iPhone app a group of researchers have found a ... then it is likely to be healthy to eat too," said ...
    ... are more common than ever before. According to the ... Americans suffers from an allergy from milder forms ... allergies which can lead to anaphylactic shock. ... an allergic reaction, the treatment is too limited, says ...
    ... Boulder, Colo., USA Two Geology studies focus on ... view of alpine denudation and the other studying and ... include fossil microatolls and sea level; the potential rupture ... Northwest and British Columbia; paleoclimate; and the relationship between ...
    Cached Biology News:Study finds healthy seafood comes from sustainable fish 2What sets allergies in motion? 2What sets allergies in motion? 3Debris flows, landslides, fossil microatolls, paleo-seasonality, and carbonate ore deposits 2Debris flows, landslides, fossil microatolls, paleo-seasonality, and carbonate ore deposits 3Debris flows, landslides, fossil microatolls, paleo-seasonality, and carbonate ore deposits 4Debris flows, landslides, fossil microatolls, paleo-seasonality, and carbonate ore deposits 5Debris flows, landslides, fossil microatolls, paleo-seasonality, and carbonate ore deposits 6Debris flows, landslides, fossil microatolls, paleo-seasonality, and carbonate ore deposits 7Debris flows, landslides, fossil microatolls, paleo-seasonality, and carbonate ore deposits 8
    (Date:9/16/2014)... 16, 2014 This report analyzes the worldwide markets ... Software, Hardware, and Biocontent. The report provides separate comprehensive analytics ... Japan , Europe , ... Rest of World. Annual estimates and forecasts are provided for ... is provided for these markets. Market data and analytics are ...
    (Date:9/16/2014)... WASHINGTON, D.C., September 16, 2014 --The emerging field ... portable to the next level, enabling the construction ... highly efficient devices, individual molecules would take on ... and transistors. , A team of researchers from ... potential candidate for use in small-scale electronics: a ...
    (Date:9/16/2014)... (PRWEB) September 16, 2014 ... world’s most efficient method for delivering dissolved gases ... Equipment Inc. as a manufacturer’s representative firm ... gas dissolution products for municipal water and wastewater ... Quebec. , H2Flow was founded in 1992 and ...
    (Date:9/16/2014)... September 16, 2014 CIRTEC Medical Systems’ ... Highley as CEO of CIRTEC. , “I am ... for the Company.” noted Brian Highley. “The company has ... sustaining strong organic growth over the past two years. ... continuing to improve and expand the services Cirtec offers ...
    Breaking Biology Technology:Global Bioinformatics Industry 2Global Bioinformatics Industry 3Global Bioinformatics Industry 4Global Bioinformatics Industry 5Global Bioinformatics Industry 6Global Bioinformatics Industry 7Global Bioinformatics Industry 8Global Bioinformatics Industry 9Global Bioinformatics Industry 10Global Bioinformatics Industry 11Global Bioinformatics Industry 12Global Bioinformatics Industry 13Global Bioinformatics Industry 14Global Bioinformatics Industry 15Global Bioinformatics Industry 16Global Bioinformatics Industry 17Global Bioinformatics Industry 18Global Bioinformatics Industry 19Global Bioinformatics Industry 20Global Bioinformatics Industry 21Global Bioinformatics Industry 22Global Bioinformatics Industry 23The future face of molecular electronics 2BlueInGreen® Expands into Canada – Signs Representative Agreement with H2Flow Equipment Inc. 2
    ... Mylan Inc. (NYSE: MYL ),today announced that Mylan ... and Drug Administration (FDA) for its,Abbreviated New Drug Application ... and 200 mg., Lamotrigine Tablets are the generic ... approximately $1.97 billion,for the 12 months ending Sept. 30, ...
    ... Calif., Dec. 12 LUMEDX Corporation, the ... and imaging,solutions, introduces CardioManager Performance Management System(TM),cardiology ... operational,financial -- into accessible, actionable information. CardioManager,s,performance ... a,high-level view of data and the ability ...
    ... the FDA for the Fourth Genmab Antibody ... Collaboration with Roche., COPENHAGEN, December 12 Genmab ... application (IND) for a,Genmab antibody developed under the company,s ... Roche. Genentech and Roche are collaborating on,development of the ...
    Cached Biology Technology:New Cardiology Software Helps Heart Centers Manage for Optimal Clinical Performance 2Fourth Genmab Antibody Developed Under Roche Collaboration to Enter Clinic 2Fourth Genmab Antibody Developed Under Roche Collaboration to Enter Clinic 3