February 19, 2014
On December 3, 2013, a workshop called “Rare genetic diseases: diagnosis and discovery workshop” took place in Prague, Czech Republic. It was organized by the Diagnostics Scientific Committee of the IRDiRC (International Rare Diseases Research Consortium), chaired by Kym Boycott (University of Ottawa and Children’s Hospital of Eastern Ontario Research Institute) and Milan Macek (Charles University Prague and University Hospital Motol), and hosted by Milan Macek. This workshop aimed to create partnership opportunities between Central/Eastern Europe, the Middle East and Canada in the rare disease field. During the meeting, different infrastructures were introduced such as the IRDiRC, CARE4RARE, or GEUVADIS, and Central/Eastern Europe as well as Middle Eastern partners presented short summaries of their activities. Mechanisms to enable international data sharing were also discussed during the day, with the examples of Cafe Variome, PhenoTips or Phenome Central.