EVBRES

EVBRES

Towards an International Network for Evidence-based Research in Clinical Health Research

Financed by : European Commission

Program : EUROPEAN COOPERATION IN SCIENCE AND TECHNOLOGY (COST) 2017

Grant Agreement ID: CA17117

Role in the project: Member

Duration: October 2018 to October 2022

Representatives:

JOSÉ CARLOS FERNÁNDEZ GARCÍA

ABSTRACT

“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.”

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