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Down syndrome (DS), a chromosomal disorder caused by the presence of an extra copy of chromosome 21, also known as trisomy 21 (T21), is the most common genetic cause of conditions like intellectual disability, congenital heart defects, and increased risk of Alzheimer’s diseases. For decades, this has been considered as a condition that could only be diagnosed, not treated. Today, However scientific research is paving the way.
It’s entering a new era of precision medicine. Genome editing technology, powerful machine learning, targeted medications, and biochemical profiling are all working together to change how we study, diagnose, and treat DS.
CRISPR Gene Editing for trisomy
Research on the genetic basis of Down syndrome has advanced significantly in recent years. Using CRISPR-Cas9, Japanese researchers made a historic discovery in a recent article of PNAS Nexus, successfully deleting the extra copy of chromosome 21 that causes Down syndrome in human cells. With a success rate of up to 37.5%, this study describes a precise “trisomic rescue” technique that enhances cellular activity and restores normal gene expression in both stem cells and skin fibroblasts. It is anticipated that this strategy will help avoid and treat several of the condition’s consequences in the future (1).
Machine Learning : Identifies Molecular Subtypes in Down Syndrome
Another study in early 2024 from the Linda Crnic Institute analysed the expression of genes encoded on chromosome 21, which is triplicated in those with Down syndrome, and identified unique patterns of gene overexpression among individuals. By employing advanced machine learning algorithms, researchers matched the variable chromosome 21 gene overexpression patterns to three distinct molecular and immune subgroups of individuals with Down syndrome. This is the first time that molecular profiles derived from blood samples are used to stratify the population with Down syndrome into distinct subsets (2).
JAK Inhibitors: A New Hope for Autoimmune Conditions in Down Syndrome
Autoimmune diseases are more common in people with DS due to immune dysregulation. To regulate the immune and inflammatory responses, Janus Kinase (JAK) inhibitors are used as a targeted drugs that block JAK-STAT pathway. In autoimmune diseases, this pathway can become overactive, leading to excessive immune responses and tissue damage. JAK inhibitors have shown efficacy in controlling disease flares, managing cutaneous symptoms, and alleviating joint pain in patients who don’t respond to conventional treatments. Unlike conventional methods that target a single immune pathway, JAK inhibitors block multiple pro-inflammatory signals at once, offering more effective strategy for immune modulation. (3)