Down syndrome, also known as trisomy 21, is one of the most common cause of intellectual disability and occurs in one in every eight hundred births. It results from a chromosomal abnormality where cells of affected individuals contain a third copy of chromosome 21 (1% of the human genome). A study conducted by Stylianos Antonarakis and his team in the Department of Genetic Medicine and Development at the University of Geneva (UNIGE) Faculty of Medicine, published in Nature, shed light on how the extra chromosome 21 upsets the equilibrium of the entire genome, causing a wide variety of pathologies.



Fragile X syndrome is the most common form of inherited intellectual disability, with no cure available. Individuals with the syndrome cannot produce enough of a protein—called the fragile X mental retardation protein (FMRP)—whose function has remained somewhat mysterious. Now researchers, reporting online April 17 in the Cell Press journal Molecular Cell, show that the FMRP protein regulates the machinery within a cell that is responsible for generating all functional proteins. The findings provide new insights into how Fragile X syndrome develops and could lead to novel therapies that might help restore some of the capabilities lost in affected individuals.