On 21 March, the Hospital del Mar Research Institute and the Centre for Genomic Regulation (CRG) commemorated World Down Syndrome Day by presenting the results of the European GO-DS21 project, which has come to an end after five years.
GO-DS21 (Gene overdosage and comorbidities during the early lifetime in Down Syndrome) is a project in which, in addition to these two PRBB centres, 10 other research centres in France, Germany, England and the Netherlands have participated. It has studied the comorbidity of patients with Down Syndrome; in other words, what other pathologies coexist with the syndrome and how these may affect health.
Results have shown that Down’s syndrome patients have a higher predisposition to obesity and diabetes, as well as a higher risk than the general population for dementia, hypothyroidism, epilepsy and leukaemia. However, they are less at risk for asthma, some cancers, ischaemic heart disease and high blood pressure.
According to Rafael de la Torre (Hospital del Mar Research Institute), the study has also shown that a good diet and exercise in patients with Down’s syndrome not only reduces comorbidities such as obesity, but also improves cognitive perception. In this case, the researchers, who also include Mara Dierssen, conclude that a diet rich in vegetables, high-quality proteins, whole grains and healthy fats is the most appropriate and that the eating habits of family members influence those of the patients.
People with Down’s Syndrome have been the undisputed protagonists of GO-DS21, and also participated in the presentation of the results on 21 March, together with their families and patient associations. The event included a creativity workshop organised by the design studio La Casa de Carlota, and culminated with a snack provided by the company Bimbo, both partners in the project.
Drawings from the creativity workshop conducted by La Casa de Carlota
From nutrition to pharmacological treatments
GO-DS21 is not the only Down’s Syndrome project in which the CRG and Hospital del Mar are involved.
ICOD, also a multinational project funded by the European Union and led by de la Torre, is conducting clinical trials of a new drug that, in preliminary studies, has been shown to increase cognitive capacity and social and communication skills in adults with Down’s Syndrome. The drug partially inhibits the CB1 receptor, which is overexpressed in people with chromosome 21 trisomy.
Down’s syndrome affects approximately 1 in 1000 newborns, with a large increase in incidence over the last 30 years. Until recently, life expectancy was in the mid-twenties. However, this has increased to 70 years due to improvements in quality of life. This has meant that diseases associated with Down’s syndrome are now being seen that were previously undetected because they occurred later in life. Understanding the effect of these other pathologies, as well as advances in pharmacological treatments, will pave the way for people with Down syndrome to not only live longer, but better.
