On March 21, 2025 (World Down Syndrome Day), we are celebrating inclusion and human rights for people with Down syndrome. Research can lead to a better future for a population that is often marginalized.
Since the discovery of Trisomy 21 in 1959, the inclusion of people with Down syndrome in society has significantly improved. Progress has been closely linked to a remarkable increase in life expectancy.
In the 1930s, those with Down syndrome only lived until the age of nine, but today the average lifespan is more than 60 years old. The key to this amazing increase is better management of medical conditions and progress in medical research and clinical care.
The triplication of chromosome 21 leads to changes in the regulation of gene expression, even beyond chromosome 21. Excess of certain proteins may be responsible for the intellectual deficit linked to Down syndrome, and these proteins could be targeted in new treatments.
This is the ambition of several research projects led by researchers involved in the international Trisomy 21 Research Society. A combination of therapeutic approaches may have the best possible impact. If successful, this could transform life for those with intellectual disabilities. But there are barriers that must be overcome.
It was long believed that there were no possible treatments of intellectual disability in individuals with Down syndrome. Furthermore, people with Down syndrome are often excluded from clinical studies, such as Alzheimer’s disease, despite their higher risk of developing the disease (as many as 90 per cent of those with Down syndrome may develop Alzheimer’s disease if they live long enough).
Investing in research to develop safer therapeutic strategies tailored to individuals with Down syndrome could provide much-needed treatment options and improve the safety and efficacy for everyone. We hope that medical innovation can uncover the hidden yet very real abilities of this population, without altering their fundamental identity.
One reason for a lack of pharmaceutical investment in this population is the paucity of information regarding biological mechanisms, disease progression and age of onset of dementia. There is a lack of brain tissue from clinically and pathologically well-characterized individuals with Down syndrome to investigate the neurobiological mechanisms driving dementia in Down syndrome.
A brain donation is an amazing gift toward research that keeps on giving. The family will also receive information regarding the cause of death– something that can be very important. There are several brain banks in Canada that can receive brain tissue donations and disseminate these research materials to scientists (see example at: medschool.cuanschutz.edu/neurosurgery/research-and-innovation/services/down-syndrome-biobank).
Investing in research on Down syndrome is an investment in a future where individuals with Down syndrome are seen not just as beneficiaries, but as key contributors to scientific and social progress. To achieve this, we call on policymakers, funding organizations and the scientific community to increase dedicated research funding, ensure clinical trial inclusion and foster interdisciplinary collaborations. This is not just a scientific imperative—it is a human one.
This past February, Richard Beaton of Powell River, BC, made this significant donation for ongoing research. For information on how to prepare to give this gift from Canada, please contact his mom, Diane Beaton, at [email protected].
At a city council meeting on Thursday, March 20, mayor Ron Woznow proclaimed Friday, March 21, as World Down Syndrome Day in Powell River.
Submitted by Lotta Granholm, Department of Neurosurgery, University of Colorado, on behalf of the Trisomy Research Society, an international non-profit scientific organization of researchers studying Down syndrome. Contributing writers include: Eugenio Barone, Renata Bartesaghi, Laura Cancedda, Filippo Caraci, Floriana Costanzo, Fabio Di Domenico, Lucio Nitsch, Marzia Perluigi, Iris Scala, Florenza Stagni, Pierluigi Strippoli. Antonella Tramutola, Rosa Anna Vacca, Diletta Valentini, Stefano Vicari, Italy; Maria Carmona-Iragui, Rafael de la Torre, Mara Dierssen, Juan Fortea, Pilar Garcia, Diego Real de Asua, Spain; Cecile Cieuta-Walti, Canada; Alberto Costa, Joaquin Espinosa, Ann-Charlotte Granholm, Sigan Hartley, Elizabeth Head, Thessa Hilgenkamp, Elliott Mufson, Jon Pierce, Michael S. Rafii, Jonathan Santoro, Stephanie Santoro, Brian Skotko, Bing Ye, Eugene Yu, USA; Alain Dekker, The Netherlands; Elizabeth Fisher, Dean Nizetic, Francis Wiseman, Shahid Zaman, Russia; Sujay Ghosh, India; Pablo Helguera, Mariana Maccioni, Argentina; Yann Herault, Jacqueline London, Pierre-Yves Maillard, Laurent Meijer, Clotilde Mircher, Maria-Claude Potier, Anne-Sophie Rebillat, Damien Sanlaville, France; Eimear McGlinchey, Ireland; Andre Megarbane, Lebanon; Eitan Okun, Israel; Csaba Szabo, Switzerland.
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