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Published: 20 March 2017  
Related theme(s) and subtheme(s)
Health & life sciences
International cooperation
Research policyHorizon 2020  |  Seventh Framework Programme
Science in societyPeople in science
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EU research funding targets help for people with Down syndrome

World Down Syndrome Day on 21 March 2017 raises awareness and informs policymaking and action at all levels of society. For its part, the EU has been a major funder of projects and initiatives aimed at promoting inclusion, boosting knowledge and improving the lives of people with Down syndrome and their families.

Image of an woman and girl with Down syndrome

© denys_kuvaiev - fotolia.com

Every year, more than 130 000 children are born in Europe with some form of congenital anomaly (CA), including Down syndrome - defined as a genetic disorder. These conditions are often rare and represent a major cause of infant mortality, childhood morbidity and long-term disability.

Down syndrome is a genetic condition caused by an extra chromosome 21, or 'trisomy21', in the body's cells and results in characteristic physical features and developmental problems.

The focus of care is usually on early intervention to help improve skills - physical, speech-language, occupational, emotional and behavioural - and to reduce the impact of associated health problems, such as heart disease and complications with the thyroid, bowels, eyes and bones. Research shows that an inclusive education improves Down syndrome children’s development, as does the support of family and community.

Improving lives

Better understanding of Down syndrome and early interventions can greatly increase the quality of life of children and adults and help them live fulfilling lives.

EU research on Down syndrome is channelled through several funding programmes and initiatives, including the Seventh Framework Programme (2007-2013) and the current Horizon 2020 programme, which runs until 2020.

Since 2007, EUR 196 million has been allocated to research on a wide spectrum of congenital anomalies, including dedicated funding for 9 projects focusing on Down syndrome.

Take for example the three-year CG-DS MORPHOSYNTAX project, which investigated the impact of intellectual disabilities on language development and focused on to what extent Down syndrome affects grammar skills.

“Public funding for poorly understood areas like the exact nature of language ability and development is critical because it can improve services provided to individuals with Down syndrome,” says project coordinator Kleanthes K. Grohmann of University of Cyprus and director of the Cyprus Acquisition Team.

The two-year ID PHYSIOLOGY project addresses how people with intellectual disabilities respond physically to exercise. Keeping this population fit and active can help promote better long-term health and daily functioning.

“By taking the expected physiological differences into account, the safety and effectiveness of physical activity and exercise intervention programmes for individuals with intellectual disabilities will be improved,” notes the project team.

And the four-year MEIOSIS2012 project delved into the science behind defects caused by chromosome segregation during cell division (meiosis). This is known to be a cause of miscarriages, birth defects, infertility and genetic conditions, such as Down syndrome. Better understanding of this process could reveal the secrets of sex cell development and reproduction with implications for diagnostics and treatment of infertility, certain cancers and genetic diseases.

“After 17 years abroad, the Marie Sklodowska-Curie fellowship helped me set up a lab back in my home country Slovakia, where we identify chromosome segregation problems leading to the production of sperm and egg cells with an abnormal number of chromosomes that is typical of several genetic diseases such as Down syndrome,” says lead researcher Juraj Gregan, Department of Genetics, Comenius University in Bratislava, Slovakia.

Programmed to help

The Commission’s Joint Research Centre manages the EUROCAT network of population-based registries for congenital anomalies. The initiative is intended to actas a catalyst for the establishment of registries around Europe for the collection of comparable, standardised data for the epidemiologic surveillance of congenital anomalies.

The five-year EUROlinkCAT project, funded by H2020 and launched in 2017, is using EUROCAT to link 21 registries across 13 countries with a view to investigating the health and educational outcomes of 200 000 children as they grow up. "This enhanced information will allow optimisation of personalised care and treatment decisions for children with rare congenital anomalies," notes the project team.

Project details

  • Project acronym: CG-DS Morphosyntax
  • Participants: Cyprus (Coordinator)
  • Project N°: 322005
  • Total costs: € 75 000
  • EU contribution: € 75 000
  • Duration: August 2012 - July 2015
  • Project details

  • Project acronym: ID Physiology
  • Participants: Netherlands (Coordinator)
  • Project N°: 625455
  • Total costs: € 173 640
  • EU contribution: € 173 640
  • Duration: July 2015 - June 2017
  • Project details

  • Project acronym: Meiosis2012
  • Participants: Slovakia (Coordinator)
  • Project N°: 322300
  • Total costs: € 100 000
  • EU contribution: € 100 000
  • Duration: March 2013 - February 2017
  • Project details

  • Project acronym: EUROlinkCAT
  • Participants: UK (Coordinator), Denmark, Italy, Croatia, Netherlands, France, Spain, Poland, Finland, Ukraine, Germany, Portugal, Belgium
  • Project N°: 733001
  • Total costs: € 7 348 072
  • EU contribution: € 7 348 072
  • Duration: January 2017 - December 2021
  • Project details

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