Naslov
Benefits of the Inherited NeuroMetabolic Diseases Network (InNerMeD) in biomarkers development

Autori
Delaš, Ivančica ; Scarpa, Maurizio ; Barić, Ivo

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
11th Annual Biomarkers Congress Workbook / Roberts, Cerlin - Oxford : Oxford Global, 2016, P5-P5

Skup
11th Annual Biomarkers Congress

Mjesto i datum
Manchester, Ujedinjeno Kraljevstvo, 25.02.2016. - 26.02.2016

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
InNerMeD network; biomarkers; new-born screening; inherited metabolic diseases

Sažetak
Introduction: Early pre-symptomatic or prenatal diagnosis and new-born screening of inherited neurometabolic diseases (INMD) are crucial for application of the appropriate therapy as early as possible, in order to minimize impairment of brain function. Searching for novel biomarkers applicable in diagnosis and monitoring of diseases is continuous process. Methods: In order to increase medical and general awareness on INMD and potential biomarkers development, Inhereted NeuroMetabolic Disease (InNerMeD) Information Network is used. Results: Inhereted NeuroMetabolic Disease (InNerMeD) Information Network (www.innermed.eu) is the first European Network on INMD funded by the Directorate-General for Health and Consumers within the Second Health Programme of the European Commission (Grant Agreement No. 201212121 - Collaborative Project). The main objectives of the Network are: i) acquisition of critical mass of knowledge encompassing multi-specialist competences, ii) a further boost to research and technological innovation ; iii) creation of repository containing standardized data spanning research, clinical features, available therapies and off-label application, biomarkers and genetic data ; iv) dissemination of knowledge among physicians, patients and general stakeholders to anticipate diagnosis and supply an adequate therapy. Conclusion: The expected benefit from the InNerMeD network is to increase validated knowledge on INMD and to expand activities with networks of excellence focused on genetic CNS diseases.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA