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The aim of the Society is to foster the study of inherited metabolic disorders and related topics. The Society, founded in 1963, exists to promote exchange of ideas between professional workers in different disciplines who are interested in inherited metabolic disease. Pursuing this aim by arranging scientific meetings, publications and in other ways considered appropriate […]
…Advancing Research and Effective Treatment for Alternating Hemiplegia of Childhood Bringing Science and Patients together
…European network of population-based registries for the epidemiologic surveillance of congenital anomalies.
…In order to better understand the natural course, risk factors, treatments and reasons for the development of childhood interstitial lung disease (chILD), we will collect and analyse details of symptoms and quality of life, clinical data and also biological material in a Register and Biobank. In the long run, this Register will serve the improved […]
…The principal objective of RaDiCo is prospective collection, in the field of rare diseases (RD), of extensive phenotype data with a view to clinical and epidemiological research in liaison with translational and basic research. The data may be diverse: anatomical (medical imaging), biochemical, molecular, etc.
…Proyecto prioritario del segundo Plan Nacional de Enfermedades Raras, financiado por el Ministerio de Salud, el Banco Nacional de Datos de Enfermedades Raras es un instrumento nacional de epidemiología y salud pública al servicio de las enfermedades raras.
…The overall objective of this new 3-year initiative is to develop a network of communication and information sharing across the field of rare nervous system disorders in children characterised by paroxysmal attacks.
…EuroGentest2 is a Coordination Action funded by the 7th Framework of the European Commission. The project is organised in 3 Units looking at all aspects of genetic testing. The integration between Unit 1, 2 and 3 will be warranted by two transversal/cross-sectional work packages and one work package dedicated to managerial issues.
…Chromosome Disorder Outreach Inc. is a non-profit organization which was founded in 1992 by a group of seven parents raising children born with rare chromosome disorders. The Genetic Alliance helped CDO get its start that year, and CDO was approved as a member of the National Organization of Rare Disorders (NORD) in 1998.
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