Project Manager, Pam Griffiths and Clinical Fellow, Ruth Day represented the DYSCERNE Network at this year’s European Society of Human Genetics conference, held at the end of May in very warm and sunny Vienna.
A productive meeting of DYSCERNE’s main partners was held at which project progress and future plans for the Network were amongst the topics for discussion. Posters on each of the Network’s main activities were presented at the conference, and Pam and Ruth were very pleased with the positive feedback about the project that they received from delegates who visited them during the viewing sessions, particularly in relation to the educational tool on "Examination of a fetus with congenital abnormality". It was really good to put faces to names and chat face to face with Network Members. Over fifty people signed a sheet requesting further information about the Network, and others very kindly offered to translate the project documentation into their native languages including Slovak.
At the start of Sunday’s dysmorphology workshop, Ruth gave a brief spoken presentation on the Dysmorphology Diagnostic System. Using an example of 2 siblings that had been submitted to the system during the pilot, she gave an overview of the whole process of case submission and review. In this instance, the Expert consensus was that this was likely to be a new, recessive condition., which is an exciting outcome for one of our first cases.
Another high point was the signing of a letter of intent by Orphanet Director, Segolène Ayme and DYSCERNE’s Principal Investigator, Jill Clayton-Smith. The letter formalises the two organisations’ intention to work closely together wherever possible and expresses their commitment to identify areas where collaborative working would be mutually beneficial.
Thanks to everyone who came and said hello in Vienna. Next year, we’re looking forward to meeting many more of you at a DYSCERNE Networking event that will take place in Gothenburg at the 2010 ESHG Conference. Details of this event will be confirmed in the Autumn.