World Down Syndrome Day 2026: how EU-funded research is contributing to enhancing the quality of life of people with Down Syndrome

21 March is observed annually as World Down Syndrome Day, raising global awareness of Down syndrome – a condition caused by an extra copy of human chromosome 21. 

Individuals with Down syndrome experience lifelong cognitive impairments that can significantly impact their life, their families and society.  

According to the United Nations, each year approximately 3,000 to 5,000 children are born with Down syndrome, resulting in an estimated incidence of around 1 in 1,000 births worldwide. 

Scientific research is key to improving the cognitive development, autonomy and quality of life of people living with Down syndrome. In line with this goal, we shed light on two projects funded under the Horizon 2020 programme that have made progress in improving our understanding of Down syndrome and enhancing cognition in individuals living with this condition. 

The ICOD project (Improving COgnition in Down syndrome) is accelerating the development of the first pharmacological therapy that can address working memory, the core cognitive impairment of people with Down Syndrome.  

The treatment is based on the molecule AEF0217. The safety and tolerability of AEF0217 have been successfully assessed in a phase I clinical trial. Moreover, the European Medicines Agency (EMA) has issued a positive opinion on the paediatric investigation plan for the therapy, which reduces regulatory risks and brings the treatment one step closer to becoming available.  

The phase II clinical trial, about to begin, will further assess the safety and efficacy of AEF0217 and will be carried out across three countries (Spain, France and Italy), with results foreseen for 2027. 

The ICOD project YouTube channel contains videos of some of the project’s key activities and educational content including international workshops, webinars, research updates and expert presentations. 

GO-DS21 (Gene overdosage and comorbidities during the early lifetime in Down Syndrome), concluded in 2025, has conducted the first study of its kind to investigate the presence of multiple health issues in people with Down syndrome across their lifespan, in an effort to better understand how the specific needs of individuals living with this condition compare to those of people with other forms of intellectual disability. 

The GO-DS21 researchers found that, compared to the general population, people with Down syndrome have a higher risk of dementia, hypothyroidism, epilepsy and hematological malignancy (cancers that begin in blood forming tissue such as leukaemia). However, they were less likely to suffer from asthma, solid tumours, ischaemic heart disease and particularly hypertension. 

The study also found that people with Down syndrome who have one health condition are more likely to have other conditions too. For instance, people with Down syndrome who are obese are more likely to also have obstructive sleep apnea, dementia or thyroid problems. 

The results of this study can provide healthcare professionals with a better understanding of the specific health needs of people living with Down syndrome, as well as those with an intellectual disability, allowing for tailored care that can improve their quality of life, extend their life expectancy and reduce inequalities.  

Background   

Horizon Europe is the research and innovation programme of the EU for the period 2021-2027. The aims of Cluster 1 ‘Health’ include improving and protecting the health and well-being of citizens of all ages by generating new knowledge, developing innovative solutions and integrating where relevant a gender perspective to prevent, diagnose, monitor, treat and cure diseases.  Horizon 2020 was the predecessor of Horizon Europe, and it ran from 2014 to 2020. HaDEA manages the legacy Horizon 2020 projects to ensure the completion of this framework programme and supports the auditing process of the finished projects.