The Phelan-McDermid Syndrome Association is organizing this year the 2nd edition of the virtual solidarity race “RUN LIKE A HERO” GLOBAL RUNNING WEEK, from October 16 to 24.
Anywhere in the world, find a 1 or 5km route to run to foster medical research on the Phelan-McDermid Syndrome and to celebrate the International Phelan-McDermid Day, 22th October 2020!
To participate, register here : https://runlikeahero.com
This new ITHACA webinar will focus on elucidating neurodevelopmental disorders caused by deleterious variants in the human RAC1 and RAC3 genes, including intellectual disability, autism spectrum disorders and epilepsy. These genes encode proteins that are crucial for brain development by regulating cell signaling pathways involved in neuronal migration, differentiation and synaptic function. In this webinar, […]
Results of the evaluation of ERNs were just published by the European Commission. To write this report, 24 interviews with ERN coordination teams and ePAGs advocacies, as well as audits of almost 200 HCPs were conducted by a team of 179 independant evaluators. Additional information, suggestions and comments were also collected through online questionnaires sent […]
Last November 15th, the Service of Medical Genetics that belongs to Unidade Local de Saúde Santa Maria, in Lisbon, Portugal, celebrated its 25th anniversary. The celebration included a lecture given by guest speaker Prof. Sofia Douzgou Houge and the vernissage of a photography exhibition. This photography exhibition entitled “25 years, 25 faces – Rewriting the […]
