In an unprecedented discovery, researchers have identified the subtypes of Down syndrome. This major scientific discovery will provide new insights that could lead to a personalized medicine approach to managing this syndrome.
The new study, published in Nature Communications in July, was conducted by researchers from the Linda Krenick Down Syndrome Institute at the University of Colorado Anschutz Medical Center, part of the ongoing Human Trisomy Project at the Krenick Institute, which identifies distinct molecular and immunological subtypes among individuals with Down syndrome.
Down syndrome
Down syndrome, also known as Trisomy 21, is caused by the presence of an extra copy of chromosome 21, and is associated with neurodevelopmental differences and a distinctive medical history. Individuals with Down syndrome have a significantly lower risk of certain medical conditions, such as most solid cancers and high blood pressure, but are at a much higher risk of autoimmune disorders and Alzheimer’s disease. However, the variations in how these traits arise in individuals with Down syndrome have long puzzled the medical and research communities.
New study
The Kernick Institute team analyzed the expression of genes on chromosome 21, which is triplicated in people with Down syndrome, across hundreds of participants in the Human Trisomy Project and identified unique patterns of gene overexpression across individuals. Using advanced machine learning algorithms, the researchers matched the altered patterns of gene expression on chromosome 21 to three distinct molecular and immune subgroups of individuals with Down syndrome.
This is the first time that molecular profiles derived from blood samples have been used to divide individuals with Down syndrome into distinct subgroups.
“There is remarkable diversity in developmental and pathological features in people with Down syndrome, and we strongly believe that this diversity is key to making discoveries that will improve health outcomes and increase life expectancy for this population,” said Dr. Joaquin Espinosa, executive director of the Kernicke Institute and director of the Human Trisomie Project.
“These findings mark a transformative step toward better care for individuals with Down syndrome,” said Dr. Micah Donovan, a research associate at the Kern Institute and one of the lead data analysts, according to EurekAlert. “This allows us to shift from a general strategy to a more specific and precise treatment approach that addresses the unique manifestations of Down syndrome.”
The distinct molecular signatures in immune function, cell signaling, and metabolism provide researchers with a roadmap for developing diagnostics and therapies tailored to this population.
Human Trisomme Project
The project team brings together many experts with the unified goal of understanding how Trisomy 21 causes a wide range of diseases.
Although we know that individuals with Down syndrome are at increased risk for certain medical conditions, we do not yet understand what causes the particular combination of health problems that any individual may experience.
Data collected by the Human Trisomy Project will help explain this diversity by looking at genetic, metabolic, microbial, immune and many other factors and how they affect a person’s health in the context of Trisomy 21.
Upon completion, the project will advance understanding of many major medical conditions and human biology in general, according to the project’s website, enabling the development of new diagnostic and therapeutic tools to serve not only individuals with Down syndrome, but also the billions worldwide who suffer from conditions affected by the disease.
“This study explores the power of advanced computational methods to analyze large-scale datasets,” explains Dr. Matthew Galbraith, director of the Data Science Program at the Cranwick Institute and one of the lead authors of the paper. “Thanks to the datasets generated by the Human Trisomie Project, it is now possible to envision a personalized medicine approach to studying Down syndrome, similar to what has been achieved for other medical conditions.”
Researchers at the Kernick Institute hope these insights will lead to improved treatment outcomes and quality of life for individuals with Down syndrome. This groundbreaking work not only deepens our understanding of Down syndrome, but also highlights the potential for more accurate diagnosis and treatment of complex medical conditions.