A survey study, relating to the perception of social and medical assistance in the daily life of rare metabolic patients.
New study: Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.
The 17th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), will take place the 9th-10th of September 2021.
The 5th International Symposium on UCD will take place as a virtual satellite to the International Congress on Inborn Errors of Metabolism (ICIEM).
The 4th International Conference On Pediatric Liver Disease takes place in Hamburg. Its mission is to connect health care professionals engaged in pediatric hepatology, surgery and transplantation to exchange insights into the latest diagnosis, treatment, and up to date research in pediatric liver disease.
Some exciting news to share! MetabERN and Medics4RareDiseases are eager to combine their efforts, establishing future collaboration. Education and training of young physicians and young healthcare professionals is highly important to raise awareness about rare diseases and inspire the next generation of physicians involved in the field. The objective of M4RD is the relief of sickness and preservation of health for those suffering from rare diseases, throughout the world
IEMbase mobile app version 1.0. Inborn errors of metabolism (IEMs) represent a large class of rare genetic disorders. For a considerable proportion of IEM, therapy is available, which dramatically improves patient outcomes. Accurate and timely diagnosis is therefore essential. However, the accuracy and timeliness of an IEM diagnosis is often difficult to achieve due to a staggering number of these rare genetic disorders, the heterogeneity of symptoms and phenotypes, as well as the extensive list of required tests and skills to properly interpret these in the context of the patient’s phenotype.
The European Commission in cooperation with ECORYS has launched the ERN Exchange Programme designed to share knowledge and stimulate collaboration between healthcare professionals in the European Reference Networks (ERNs). The ERN Exchange Programme aims at harmonising specific knowledge within the ERNs and reducing gaps in expertise.
Emergency situations are a major burden for many patients suffering from Inherited Metabolic Disorders and their families. Having an emergency letter and knowing how to use it can prevent life-threatening situations and will optimize communications between parents and doctors. This webinar aims to inform patients about the emegencyprotocol.net website, which offers a generator for emergency letters.
The team of Weber Shandwick, in collaboration with EU patient groups, trade associations and policy-makers has produced a set of 10 principles and actions to aid future policy and advocacy efforts across 3 key areas.
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