Our Vision

Down Syndrome (DS) offers a unique opportunity to uncover common as well as novel causative mechanisms of co- and multi-morbidities, because of the co-existence of physical (obesity, cardiac and hematological defects, gastrointestinal abnormalities) and mental disorders (intellectual disability (ID), autism or affective disorders) within the same individual, which can be assumed to be related to the gene overdose resulting from trisomy 21. GO-DS21 will focus specifically on obesity and ID. Obesity is a major risk factor for several chronic diseases in the general population and contributes to the death of more than 2.8 million people every year. The prevalence of obesity has been related to cognitive impairment and it increases dramatically in populations with ID.

GO-DS21 is a fundamental, preclinical and clinical innovative research program that will maximize the use of existing clinical registries and cohorts in addition to generating new data. These data will comprise the so-called DS comorbidities network, including data from registries and cohorts in the UK (Clinical Practice Research Datalink (CPRD) with at least 6,000 reported DS cases), France, Spain and Europe (three major European clinics specializing in DS). We will explore how intrinsic (genetic and pathway-driven) and extrinsic (environmental and epigenetic) factors can lead to such comorbid states. The innovative approach to be used in this project will help improve early diagnosis, prognosis and treatment of DS related comorbidities, whilst establishing novel recommendations and targeted interventions to prevent or at least minimize the appearance of obesity within the context of ID in people with DS. Beyond the impact on individuals with DS, we expect that our gained knowledge will also help other ID patients, as well as individuals in the general population in better coping with obesity and cognitive impairment.