Rare Diseases Data Integration Workshop 2019

The INFRAFRONTIER Rare Diseases Data Integration (RDDI) Workshop 2019 will take place on 15th October as an ancillary event to the ASHG 2019 in Houston, USA (http://www.ashg.org/2019meeting/). 


Day of Event: Tuesday, October 15, 2019

Time of Event: 8:30 am -1:30 pm

Venue: Room 336, Level 3, Hilton Americas-Houston


Brief Description:

The workshop aims to:

    • Align relevant genetic and phenotypic data from model organisms with rare diseases clinical data
    • Develop communication channels between rare disease clinicians and mouse geneticists to facilitate a bilateral exchange of resources and information
    • Explore making custom mouse models for rare disease consortia and showcase the available lines among the mouse research community
    • Bring together mouse geneticists, global rare disease communities, human geneticists and clinicians to facilitate the understanding and treatment of rare diseases

The workshop will include participants from:

    • RD-Connect - an integrated platform for rare disease research that connects databases, registries, biobanks and clinical bioinformatics 
    • The European Joint Programme on Rare Diseases - EJP-RD
    • EMBL-EBI
    • Centers for Mendelian Genomics
    • Kids First 



The final agenda can be found here.



Registrations are closed. 

Please contact asrar.khan(at)infrafrontier.eu for queries or additional information. 



Please arrange your own accommodation ASAP for the workshop as rooms will be booked out for ASHG. For possible hotels, please check out this link. Accommodation will be reimbursed for one night (14th October). If your institute / university is a part of the IPAD-MD project, please use your insitute's project funds.