This international conference (now in its 50th year) is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The conference has become one of the premier events in the fi eld of human genetics with over 3.000 delegates, more than 250 oral presentations, 18 workshops and 13 educational sessions. The ESHG conference is where the latest developments in human genetics are iscussed and where professionals from all parts of human genetics meet.