Jesús Flórez

Newborns with Down syndrome, as they grow, face a higher risk of developing leukemia compared to those without the syndrome. An international team has sequenced the genes of more than 1.1 million cells from fetuses with and without Down syndrome, and it has discovered that the extra chromosome 21 they have alters the way DNA is packaged inside cells. According to the authors, whose research is published in Nature, this difference affects the regulation of certain genes and may contribute to the development of leukemia.

A team of researchers at the Centre for Genomic Regulation in Barcelona (CRG) has found that a region of the genome is less active in model mice and people with Down's syndrome. This region is found in the so-called dark genome and does not code for a protein. According to the authors of the study, this "leads to reduced neurogenesis and impaired plasticity, which play a direct role in learning and memory". The results are published in the journal Molecular Psychiatry.

People with Down syndrome are at high risk of developing dementia very similar to that caused by Alzheimer's disease. A study published in the journal PNAS has found that in these people, as had been observed in "classic" Alzheimer's, the characteristic proteins of the disease have prion-like features.

Researchers have tested a gonadotropin-releasing hormone (GnRH) therapy in mouse models and in males (in a pilot clinical trial) with Down's syndrome. The results, published in the journal Science, suggest improved cognitive function.