This page has beta status

CA COST Action CA16210
Maximising Impact of research in NeuroDevelopmental DisorderS

This Action focuses on patients with rare neurodevelopmental disorders (NDD) whose study have the potential for major impact on our understanding and treatment of NDD in general, including schizophrenia and Autism Spectrum Disorder (ASD). NDD affect 1 in 25 individuals in Europe, and have high impact on healthcare systems, economic development and society. Lack of mechanistic knowledge hampers development of improved treatments. New knowledge from psychiatric genomics provides for the first time a route to identify neurobiological mechanisms underlying NDD. The key challenge is to link genetic risk to altered brain biology.

Although highly informative, substantial variability and severity of psychiatric symptoms means that genomic studies based on the general NDD patient population experience significant difficulties in assigning individual gene mutations to clinical phenotype. A solution to this challenge is the study of subgroup of NDD patients where deletions or duplications of DNA segments (Copy Number Variants, CNV) alter gene dosage and have a strong causal relationship with NDD. These pathogenic CNV present a major opportunity to establish mechanistic understanding and develop new therapies. However, NDD patients with these CNV are rare and require a coordinated, international collaboration to find and study them in large numbers.

MINDDS will create a pan-European network of clinical scientists, preclinical researchers and patient representatives to advance studies of NDD patients for these pathogenic CNV. It will create a legal and ethical framework for effective transnational NDD patient cohort building; develop standardized protocols and establish effective mechanisms for effective data sharing and knowledge exchange.

(Descriptions are provided by the Actions directly via e-COST.)


General Information*

Chair of the Action:

Prof Adrian HARWOOD (UK)

Vice Chair of the Action:

Dr Marina MIHALJEVIC (RS)

Science officer of the Action:

Dr Inga DADESHIDZE

Administrative officer of the Action:

Ms Jeannette NCHUNG ORU

Downloads*

Action Fact Sheet

Download AFS as .RTF

Memorandum of Understanding

Download MoU as PDF

Tools

Last updated: 13 July 2017 top of page