A modified version of CRISPR-Cas9 has enabled, for the first time, the efficient integration of a large transgene capable of inactivating entire chromosomes into one of the three copies of chromosome 21 in Down syndrome-derived cells. The goal is to silence the extra copy to limit the gene-dosage imbalance that drives many features of trisomy 21. Researchers at Beth Israel Deaconess Medical Center turned to XIST, the long noncoding RNA responsible for the natural silencing of the X chromosome in females. Using this strategy, they achieved integration efficiencies of 20% to 40% and a partial reduction in the overexpression of chromosome 21 genes.

A little-known tissue composed of a cluster of immune cells could offer novel insights into the development of neurological disorders. Meninges' immune system changes with age and neurodegeneration. Are they protecting the brain or fueling disease?

A little-known tissue composed of a cluster of immune cells could offer novel insights into the development of neurological disorders. Meninges' immune system changes with age and neurodegeneration. Are they protecting the brain or fueling disease? Mapping and analyzing the so-called ectopic lymphoid structures (ELSs) in the meninges at different ages in preclinical models of neurodegenerative diseases such as Alzheimer's may help clarify whether they are good, bad, or ugly, as in the iconic film by Sergio Leone.

At the 2024 European College of Neuropsychopharmacology (ECNP) Congress, researchers have presented work that could lead to ways to boost brain development and prevent neurodegeneration in individuals with Down syndrome.

At the 2024 European College of Neuropsychopharmacology (ECNP) Congress, researchers have presented work that could lead to ways to boost brain development and prevent neurodegeneration in individuals with Down syndrome.

Iama Therapeutics Srl has sought new, selective inhibitors of solute carrier family 12 member 2 (NKCC1) to treat autism, Down syndrome and brain disorders featuring chloride (NKCC1/solute carrier family 12 member 5 [KCC2]) imbalance.

Treatment with injections of gonadotropin-releasing hormone (GnRH), indicated to prevent sexual maturation deficits in Down syndrome, also reduced cognitive function impairment associated with Down syndrome, also called trisomy 21. With age, about three-quarters of people with Down syndrome develop Alzheimer's disease. They also lose their sense of smell. Both circumstances could improve with pulse doses of GnRH, according to a study led by the French National Institute of Health and Medical Research (Inserm) and the University of Lausanne (UNIL) published in the Sept. 1, 2022, issue of Science.