IRDiRC DECEMBER 2013 UPDATE

for Executive Committee, Scientific Committees, and Working Groups

IRDiRC new documents 

    • The 5th IRDiRC Executive Committee meeting report and the 6th IRDiRC Executive Committee report are available.     

     Access the reports here

  • An updated version of the governance document is available on the IRDiRC website following the changes requested during the 5th Executive Committee meeting in Miami.     

     Access the updated governance document here 

  • The following Scientific Committee reports are now available:

     * Diagnostics Scientific Committee:

       September 10, 2013 – 3rd IRDiRC Diagnostics Scientific Committee                meeting

       May 10, 2012 - 1st IRDiRC Diagnostics Scientific Committee meeting

     * Interdisciplinary Scientific Committee:

       May 30-31, 2012 - 1st IRDiRC Interdisciplinary Scientific Committee                meeting 

       November 9-10, 2012 - 2nd IRDiRC Interdisciplinary Scientific                          Committee meeting

     * Therapies Scientific Committee:

       October 29, 2013 - 2nd teleconference of IRDiRC Therapies                              Scientific Committee 

       July 19, 2012 - 1st IRDiRC Therapies Scientific Committee meeting

    Access the reports here

 

Highlights on research projects

  • ACMG recommendations on incidental findings earns criticism in an article; another article recommends a decision tree approach to disclosing incidental findings.

     Read the article here 

  • Ségolène Aymé (2013 European Leadership Award ; IRDiRC project coordinator), Shire (Best Pharma Pipeline ; IRDiRC member) and Prosensa (Best SME Biotech Pipeline ; IRDiRC member) have won the 2013 ROAR Awards.

     Read the article here 

  • Regulatory and scientific issues regarding use of foreign data in support of new orphan drug applications for approval by the FDA.

     Read the article here 

  • Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases. 

     Read the article here 

  • FDA awards USD 14 million to 15 rare disease projects.

     Read the article here

IRDiRC related calls

  • The 6th joint call for European research projects on rare diseases has been launched by E-Rare. 

     Access the call here

  • The Canadian Institutes for Health Research in partnership with Genome Canada is actually proposing a call named “Research Catalyst Network: expediting collaboration between basic and clinician scientists in functional studies of novel rare disease genes”.

     Access the call here 

 

Website update

  • The Therapies Scientific Committee Working Groups’ composition is available on IRDiRC members’ page.

     Access the member's page here 

  • Related rare diseases initiatives section has been updated with the addition of the Korean Organization for Rare Diseases helpful link.     

     Access the related rare diseases initiatives section here 

 

New lists of research projects funded by IRDiRC members

  • The data collection of the projects funded during 2013 by the NIH institutes are available.

     Find the different NIH lists of projects here  

  • The Orphan product grants program from the FDA are online from 2010 to 2013.

     Find the FDA list of projects here  

  • The mutation database for rare diseases (2011) and the Korean patient registries (2010) from the Korean National Institute of Health are online

     Find the list of projects here  

 

Other news

  • The 7th IRDiRC Executive Committee meeting will take place on May 7-8, 2014 in Berlin, Germany.
  • Genzyme has officially sent a letter of intent of application to join IRDIRC.

Sophie Höhn, Communication manager, IRDiRC Scientific Secretariat IRDiRC, Plateforme Maladies Rares / Rare Disease Platform, 96 rue Didot, 75014 PARIS, FRANCE, Tel: +33 1 56 53 81 37, Fax: +33 1 56 53 81 38