The topics of the 2018 Academy will be: Lysosomal storage disorders, Peroxisomal disorders, Purine and Pyrimidine disorders
The ISIMD Annual Conference 2018 is on Friday 20th April 2018 in the Pillar Room, Rotunda Hospital.
The MPS Society is holding an expert meeting in Northampton, England.
The annual meeting will be focusing on the achievements of the first year of MetabERN activities, the definition of the final report, the starting and planning of the second year of activities...
The computer networks are up and running and rare disease patients are starting to enter their data. A year after their launch, the European Reference Networks are looking ahead to what it will take to truly perform their mission
This course is organized for young physicians with special interest and a few years of clinical experience in LSDs. It will cover all different aspects of lysosomal storage disorders, including pathophysiology and genetic principles of LSDs, diagnosis of LSDs, treatment and long-term care of patients with LSDs, practical approach to ERT in LSDs, and the clinical spectrum of the different LSDs.
As MetabERN aims to promote prevention, accelerate diagnosis and improve standards of care across Europe for patients living with Inherited Metabolic Disorders, MetabERN considers the correct laboratory diagnosis as a key factor for successful management of patients.
The European Cystinosis Conference will take place in Berlin this year between the 13th and 15th of July.
On the occasion of Rare Diseases Day, on 28 February 2018, the European Reference Network for Rare Bone Disorders (ERN-BOND) coordinated by Luca Sangiorgi (IT), with the kind support of EURORDIS, organized a European Parliamentary Meeting entitled: European Reference Networks – Accelerating and Improving Diagnosis for Rare Diseases Patients.
This event is taking place in Porto (Centro Materno Infantil do Norte), and is going to count with the presence of Prof Jaak Jaeken - the doctor who first diagnosed CDG in 1980.