Down syndrome and intellectual disability research

This study shows that neurofilament light (NF-L) levels in blood increase with age and predict dementia in adults with Down syndrome, suggesting its potential as a non-invasive biomarker for neurodegeneration.

This study analyzes transcriptome changes in trisomic and disomic human iPSCs for chromosome 21, identifying altered gene expression, alternative splicing, and repetitive element transcripts, and suggests trisomy may not limit neuronal differentiation.

This study identifies ten HSA21 orthologs in C. elegans essential for neuromuscular behaviors, including three involved in acetylcholine release, providing insights into Down syndrome-related genes.