After observing that Down syndrome and various ciliopathies have many clinical overlaps, including cardiovascular, musculoskeletal, and neurological abnormalities, our scientists decided to investigate cilia function in Down syndrome. They found that trisomy 21 deregulates the expression of numerous ciliary genes…..

Red blood cells are the most common cell type in the body, and their contents mirrors systemic metabolic processes. Here our scientists provide the first mass spectrometry–based relative and absolute quantitative metabolomic description of red blood cells from people with Down syndrome. Their results show that red blood cell metabolism is widely deregulated by trisomy 21…..