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:10/17/2014)... To date, antidotes ... doctors are often limited to supportive therapy such as induced ... of drugs involved. So what can be done if a ... professor Jean-Christophe Leroux from the Institute of Pharmaceutical Sciences at ... "The task was to develop an agent that could eliminate ...
    (Date:10/16/2014)... Mary,s Virginia Institute of Marine Science have received ... Agency to identify the streams and wetlands most ... to help local governments and citizens conserve these ... a dataset of tidal-marsh observations first gathered by ... historical baseline can today,s researchers accurately map the ...
    (Date:10/16/2014)... challenged conventional thinking on how the bowel lining develops ... how bowel cancer starts. , The researchers produced evidence ... the ,crypts, that are a feature of the bowel ... bowel cancer development, a controversial finding as scientists are ... 3D imaging technologies, Dr Chin Wee Tan and Professor ...
    Breaking Biology News(10 mins):Emergency aid for overdoses 2Emergency aid for overdoses 3EPA grant will help localities conserve headwater wetlands 2EPA grant will help localities conserve headwater wetlands 3Cryptic clues drive new theory of bowel cancer development 2
    ... experiences trauma or disease, such as muscular dystrophy, ... cells" respond to repair and regenerate the muscle. ... such as muscular dystrophy, which affect muscle stability ... used time-lapse photography to document satellite cell movements ...
    ... PHILADELPHIA Although acute myeloid leukemia (AML) is relatively ... the risk, according to a recent paper published in ... of the American Association for Cancer Research. Julie ... and clinical research at the University of Minnesota, said ...
    ... to the poles, and you,ll notice that the ... equator. Move from lowland to mountains, and you,ll ... varied. Ecologists have proposed various explanations for these ... processes. New findings by University of ...
    Cached Biology News:Caught on tape: Muscle stem cells captured on video by MU researcher 2Climate change and mountain building led to mammal diversity patterns 2
    (Date:10/25/2014)... , Oct. 24, 2014  RegeneRx Biopharmaceuticals, Inc. (OTCBB: ... presented at the Fourth International Symposium on Thymosins in ... Italy.  "When thymosin beta 4 (TB4) ... into the peritoneal cavity in a rodent model of ... throughout the brain parenchyma (the functional tissue of the ...
    (Date:10/22/2014)... 22, 2014 Research and Markets ... "Global DNA Diagnostics Market (Product types, Application, Technology, ... Trends, Company Profiles, Demand, Insights, Analysis, Research, Report, ... report to their offering. This ... techniques, end users and Geography) Global Size, Industry ...
    (Date:10/22/2014)... 2014 Involution Studios , a ... a new infographic, Understanding Ebola . The ... designed, easy to follow informative tool for anyone wanting ... symptoms and prevention. , "As the news has spread ... Ebola outbreak represents not only a healthcare crisis with ...
    (Date:10/22/2014)... According to new market research ... (Consulting, Integration, Deployment & Support), by Service Model ... Private, Others (Hybrid & Community)) - Global Forecast ... the Cloud Professional Services Market into various sub-segments ... It also identifies the drivers and restraints for ...
    Breaking Biology Technology:Researchers Report Thymosin Beta 4 Crosses Blood-Brain Barrier In Animal Stroke Model 2Global DNA Diagnostics Market (Product types, Application, Technology, End User and Geography) - Forecast to 2020 2Global DNA Diagnostics Market (Product types, Application, Technology, End User and Geography) - Forecast to 2020 3Involution Studios' Ebola Infographic Provides Key Disease Information and Statistics at a Glance 2Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 2Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 3Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 4Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 5
    ... in a hexagonal, chicken wire structure holds great ... conductive, graphene may one day replace conventional silicon microchips, ... In addition to potential applications in integrated circuits, solar ... material has attracted the attention of physicists for its ...
    ... Inc. (NYSE Amex: NBS ), an international biopharmaceutical company ... will present on a panel at the 31st Annual Cowen Group ... March 7, 2011 at 1 PM and Dr. Robin Smith, the ... at 10:15 AM. The Conference will be held at the Boston ...
    ... Corporation (Nasdaq: VOLC ), a leading developer ... enhance the diagnosis and treatment of coronary and peripheral ... market the Eagle Eye® Platinum digital IVUS catheter in ... PCI Live Demonstration Course in Kurashiki, which starts on ...
    Cached Biology Technology:Probing atomic chicken wire 2Probing atomic chicken wire 3Probing atomic chicken wire 4NeoStem to Present at Cowen Group 31st Annual Health Care Conference on March 7 and 8 2NeoStem to Present at Cowen Group 31st Annual Health Care Conference on March 7 and 8 3Volcano Announces the Introduction of the Eagle Eye® Platinum Digital IVUS Catheter at the 20th PCI Live Demonstration Course in Kurashiki 2Volcano Announces the Introduction of the Eagle Eye® Platinum Digital IVUS Catheter at the 20th PCI Live Demonstration Course in Kurashiki 3
    Recommended for supporting the growth of anchorage-dependent cells including human and mouse stromal cells, mesenchymal cells and cell lines....
    ... number is a new product ... Cornings product number. If showing ... under the old Sigma-Aldrich number ... for assistance. ID clarifier: cap, ...
    Extremely high efficiency packaging extracts useful for transfecting our EpiFOS™ or CopyControl™ Fosmids, or any DNA vector with cos sites. A tremendous value when conpared to the competition...
    ... General description: Workstation for PCR set-up ... 96 MicroWell format to hold 0.2 ml PCR tubes, ... compatible with automated handling systems Removable tray ... Compatible with V-bottom 0.2 ml tube block thermal ...
    Biology Products: