A new study published in Nature communication by researchers at the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus reports a major breakthrough. The research, part of the Crnic Institute’s ongoing Human Trisome Project, identifies distinct molecular and immune subtypes in individuals with Down syndrome, providing new insights that could lead to personalized medicine approaches for the clinical treatment of this condition.
The Crnic Institute team analyzed the expression of genes encoded on chromosome 21, which is increased threefold in people with Down syndrome, in hundreds of research participants in the Human Trisome Project, and identified unique patterns of gene overexpression among individuals. Using advanced machine learning algorithms, researchers have linked the variable overexpression patterns of chromosome 21 genes to three different molecular and immune subsets of individuals with Down syndrome. This is the first time that molecular profiles derived from blood samples have been used to categorize the Down syndrome population into different subgroups.
There is remarkable variation in terms of developmental and clinical features among people with Down syndrome, and we believe that this diversity is key to making discoveries that will improve health outcomes and extend life expectancy in this deserving population. increase.”
Dr. Joaquin Espinosa, Executive Director of the Crnic Institute and Director of the Human Trisome Project
“These discoveries mark a transformative step toward developing better medical care for people with Down syndrome,” said Micah Donovan, PhD, one of the leading data analysts at the Crnic Institute Research Associate. “This allows us to move from a general strategy to a more customized strategy. , precise therapy approach that addresses the unique manifestations of co-occurring disorders in Down syndrome.”
The distinct molecular signatures in immune function, cellular signaling, and metabolism provide basic and clinical researchers with a roadmap to pursue tailored diagnostics and therapeutic approaches in this population.
“This study also highlights the power of advanced computational approaches for the analysis of large-scale datasets,” explains Dr. Matthew Galbraith, PhD, director of the Crnic Institute’s Data Sciences Program and senior author of the publication. “Powered by the datasets generated by the Human Trisome Project, it is now possible to propose a personalized medicine approach to the study of Down syndrome, similar to what has been achieved for other medical conditions.”
The researchers at the Crnic Institute hope that these insights will lead to better clinical outcomes and a better quality of life for people with Down syndrome. This groundbreaking work not only deepens our understanding of Down syndrome, but also illustrates the potential for more accurate diagnosis and treatment of complex medical conditions.
“We are beyond grateful to the Crnic Institute for their groundbreaking research that is already translating into improved medical care and health outcomes for the amazing people with Down syndrome we serve,” said Michelle Sie Whitten, president and CEO of Global Down Syndrome Foundation, a partner and affiliate of the Crnic Institute. “We are proud that GLOBAL’s advocacy work with Congress and with the NIH has led to the creation of the trans-NIH Down Syndrome Funding Project, INCLUDE, which is supporting this and countless other groundbreaking studies and clinical trials.”
Down syndrome, also known as trisomy 21, is caused by an extra copy of chromosome 21 and is associated with differences in neurological development and a distinct clinical risk profile. Individuals with Down syndrome have a significantly reduced risk of certain medical conditions, such as most cancers and high blood pressure, but they have a significantly increased risk of other diseases, such as autoimmune diseases and Alzheimer’s disease. However, the variability in how these traits manifest in individuals with Down syndrome has long baffled the medical and research communities.
Source:
Magazine reference:
Donovan, M.G., et al. (2024). Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome. Nature communication. doi.org/10.1038/s41467-024-49781-1.