Gene editing techniques may eventually allow trisomy to be treated at the cellular level, according to an in vitro proof-of-concept study.

Medically reviewed by Brigid Dwyer, MD Mosaic Down syndrome is a variant of Down syndrome. Down syndrome is a congenital (present at birth) genetic condition that occurs when a person has three copies ...

Sep. 25, 2024 — People with Down syndrome face a higher risk of developing leukemia. Now researchers explain why, by identifying specific changes in blood cells of people with Down ...

The brain of a US woman with Down syndrome showed the classic signs of Alzheimer’s disease upon her death, yet she remained ...

Transcriptomic analyses confirmed the researchers’ expectation that these interferon receptors are expressed at levels roughly 1.5 times higher in fibroblast cell lines derived from people with Down ...

In the mid-1950s Marthe Gautier, a young French doctor and cytogenetics researcher, led a cutting-edge experiment to investigate the cause of Down syndrome. She painstakingly cultured cells in a ...

Aneuploidy occurs when there are either too many or too few chromosomes in cells. Down syndrome, for example, is caused by a trisomy—three copies instead of two—of chromosome 21. Amniocentesis and ...

Mucopolysaccharidosis is a family of diseases caused by an enzyme deficiency that leads to the accumulation of glycosaminoglycans (GAGs) within the lysosomes of cells. In one particular variant of ...

Just one week ago, 17-year-old Joe Slachciak was diagnosed with leukemia. The Grand Island teen is now using his battle to ...

According to the authors, similar approaches could eventually be used in neurons and glial cells and form the basis of novel medical interventions for people with Down syndrome.