INSERM - DR6 Paris
IRDiRC Newsletter 19. May - June 2020
IRDiRC Highlights 
Nomination Call: Diagnostic Scientific Committee (DSC)
The IRDiRC DSC identifies bottlenecks to rare disease gene discovery, addresses challenges and roadblocks in diagnosis. Furthermore, IRDiRC DSC collaborates with international partners to develop tools as well as resources to facilitate genomic data discovery, analyses,  and sharing. The DSC is seeking to recruit new members who are: 
  • Clinicians 
  • Experts in genetics and genomics  
  • Bioinformaticians 
  • Experts in molecular diagnostics  
  • Biochemists 
Deadline: July 10th.
For more information, please click here.
Leadership changes
Dr. Catherine Nguyen, Director of the Thematic Institute of the Genetics, Genomics and Bioinformatics at INSERM, is the new elected Vice Chair of the Funders Constituent Committee, chaired by Dr. Adam Hartman.
Dr. Katherine Beaverson, Patient Advocacy Director, Rare Disease Research Unit at Pfizer is the new elected Chair of the Companies Constituent Committee.
New members
Illumina Inc. has joined the IRDiRC Companies Constituent Committee, Dr. Volker Liebenberg, Director Medical Affairs EMEA at Illumina Inc., represents the company in the consortium. Welcome!
IRDiRC Publications
The paper Boosting delivery of rare disease therapies: the IRDiRC Orphan Drug Development Guidebook (ODDG) has been published in Nature Reviews Drug Discovery. The ODDG is a guidebook for academic and industrial drug developers describing the available tools and initiatives specific for rare disease therapies development and how to best use them. ODDG materials, PDF presentation as well as a new webinar and interactive section -user friendly website- are now available, to facilitate access to its contents and resources. For more information, please click here
IRDiRC Spotlights
IRDiRC is increasing its presence on social media; beside the official Twitter account, it is now present also on LinkedIn with its new IRDiRC official page. Follow IRDiRC on its social media and engage with us to stay updated with the latest news. Currently, on Twitter we are running two storytelling on the IRDiRC website contents and on the Orphan Drug Development Guidebook, also two posts per week are shared on LinkedIn on the most relevant info related to the consortium.
IRDiRC has been an associated partner of the online ECRD conference. Dr Gareth Baynam gave a keynote speech during a plenary session, several IRDiRC members have chaired sessions and given talks. The ODDG webinar done by Dr Diego Ardigó and Dr Virginie Hivert has been officially launched and Dr Daria Julkowska presented IRDiRC on her talk. In addition, IRDiRC had a virtual stand together with the EJP RD and we have been actively involved in the social media campaign on ECRD during the event on twitter.
News Spotlights
FDA In Brief: FDA Requests Input on Rare Disease Clinical Trial Networks
The FDA is requesting public input on practical steps and successful approaches relating to the start-up, implementation and sustainment of global clinical trials networks, including specific considerations for establishing such networks for a range of rare diseases. For more information, please click here
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