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Comorbid Analysis of Neurodevelopmental Disorders and Epilepsy

Project description

DEENESFRITPL

A complex co-morbidity of neurodevelopmental and somatic illnesses may have a common cause

Since mapping the entire human genome nearly 20 years ago, scientists have made tremendous progress in understanding the genetic basis of many diseases. However, there is never a one-to-one link between a single gene and a single illness. Several neurodevelopmental disorders often occur together and, further, are associated with other somatic illnesses. This combination significantly affects a person's length and quality of life and there are no effective treatments. The EU-funded CANDY project is following a trail of rare and common genetic variants that are shared in many neurodevelopmental disorders and the possibility that immune dysregulation and microbiome at some point plays a role. Insight could point to personalised treatment and a drastic reduction in suffering for affected patients.

Objective

Neurodevelopmental disorders (NDDs) including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and intellectual disability (ID) are clinically heterogeneous, often co-occur, affect ~15% of the EU population; and are associated with somatic illnesses (e.g. epilepsy, autoimmune and gastrointestinal disease) that lead to a significant increase in morbidity and mortality. For instance in ASD the combination of ID and epilepsy is associated with a reduction in lifespan of ~ 20 years; and an economic cost that is greater than cancer, stroke, or dementia. Yet, the research spend on NDDs is less than 1% of those disorders. Hence, we lack effective new treatments for NDDs and do not understand why they co-occur. There is hope, however. Recent evidence shows that rare genetic variants increasing risk for NDDs are shared, converge on final common pathways (e.g. synaptic plasticity, glutamate and GABA neurotransmission, and excitation/inhibition imbalance), and a key role is likely played by immune dysregulation. CANDY’s innovation is to test, for the first time, if NDDs, and their common mental and somatic multi-morbidity, are caused by a combination(s) of common and rare genetic variants and immune activation acting at different ‘sensitive periods’. Our multi-disciplinary team of world leading academics, patient organizations and SMEs will cost-effectively leverage existing EU-funded studies to 1) identify novel mechanisms underpinning NDDs and their multi-morbidity, 2) develop new strategies for prevention and treatment, 3) deliver novel biomarkers to guide early diagnosis, stratification and/or treatment monitoring, and 4) provide open-access databases, translational test batteries, and tools and targets for valorisation. Together we will transform the landscape for people with NDDs and make possible personalized medicine approaches that target particular mechanisms, in specific subgroups of individuals and at different life stages.

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Call for proposal

H2020-SC1-BHC-2018-2020

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Sub call

H2020-SC1-2019-Two-Stage-RTD

Funding Scheme

RIA - Research and Innovation action

Coordinator

STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
Net EU contribution
€ 1 615 000,00
Address
Geert grooteplein 10 zuid
6525 GA Nijmegen
Netherlands

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Region
Oost-Nederland Gelderland Arnhem/Nijmegen
Activity type
Higher or Secondary Education Establishments
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Other funding
€ 0,00

Participants (17)

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EC signature date 22 November 2019
Last update: 21 May 2023

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Permalink: https://cordis.europa.eu/project/id/847818

European Union, 2023