Date: 10-12 May, 2018 Venue: Vienna, Austria The European Conference on Rare Diseases 2018 (https://www.rare-diseases.eu) Co-organised by EURORDIS (www.eurordis.org), DIA, and for the first time Orphanet, the theme of this edition of the conference will be “Rare Diseases 360°: Collaborative Strategies to leave no-one behind”. Importantly European Reference Networks will be a transversal topic running through […]
Date: 2-4 August, 2018 Venue: San Diego, United States This symposium is an opportunity for the MPS and related diseases community to share and exchange new information, to learn about new breakthroughs in science and medicine, and develop strategies to keep us moving forward. As we look to an exciting future filled with opportunities on […]
We are pleased to announce the Recordati Rare Diseases Academy Course entitled Inherited disorders of metabolism affecting the liver: management and outcome. The course is jointly organised by the Hepatology and Metabolic Center, Leuven and the Charles Dent Metabolic Unit, London. It will be held in Leuven Belgium on 8th and 8th March 2018. It […]
The workshop, hosted by Istituto Superiore di Sanita, in Rome, Italy, will focus on the question: How can ERNs generate, appraise and utilise clinical practice guidelines, to enhance the impact and deployment of consensus guidelines. The AIMS of the workshop will be: To agree a list of terminology pertaining to Guidelines, to be used between […]
The European Commission (DG SANTE), on November 20th 2017, launched the First Clinical Patient Management System. It’s a web-based application aimed at supporting ERNs in improving the diagnosis and treatment of rare or low prevalence complex diseases across national borders of Member States in Europe. By providing tools for collaboration and virtual consultations CPMS enables […]
The 20th anniversary edition of the EHFG took place 4-6 October 2017 in Bad Hofgastein, Austria, gathering over 500 participants. The EHFG is the most important health-related event in the European Union and a meeting point for experts from different fields within the health system. Different knowledge and different experiences are brought together to the […]
We are currently recruiting PMM2-CDG patients of all ages for an observational clinical study (GLY-000). This is the first time PMM2-CDG patients will be studied in a multi-center, multi-national group. To be clear: none of the patients in this study will receive an investigational drug. This is only an observational study, but the results are […]
We wish to announce the Recordati Rare Diseases foundation Focus Course on SYNAPTIC METABOLISM AND BRAIN CIRCUITRIES IN IEM: EXPLORING OLD AND NEW DISORDERs held 16 – 18 November in Barcelona, Spain. The course will focus on the synapse as a highly specialized structure with specific chemical composition and metabolic functions necessary for an appropriate […]
On behalf of our Priority Setting Partnership, I would like to share our questionnaire to set research priorities for liver GSD: http://tiny.cc/IGSD-English Let us know where you think research should be directed in the future. It will take just 5 minutes to complete and is open to anyone with a personal or professional connection to […]
The third international meeting of the Scandinavian Association for Glycogen Storage Disease focused on hepatic glycogen storage disease and was organized for health-care professionals, patient representatives, and representatives from the industry. This report highlights dilemmas in dietary management, differences in monitoring strategies, and challenges with rare disease care, research, and patient participation. http://journals.sagepub.com/eprint/mvxdh5nWD52b7Fg65N8w/full
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