Down Syndrome

The Down Syndrome topic includes research on the genetics, diagnosis, services, and therapies of Down syndrome, a condition resulting from an extra copy or piece of chromosome 21. The topic includes research on co-occurring diseases, such as early onset Alzheimer's disease.

Down syndrome is a chromosomal condition related to chromosome 21. Having an extra number 21 chromosome interrupts the normal course of development, causing the characteristic clinical features of Down syndrome.

People with Down syndrome have a high risk of heart defects, pulmonary hypertension, sleep apnea, gastrointestinal defects, Alzheimer’s disease/dementia, and other complications. However, many people with the condition seem to be relatively protected against heart attacks, atherosclerosis, and certain types of cancers.

Studying the conditions and diseases that disproportionately affect people with Down syndrome may lead to developing treatment options that improve health for those with Down syndrome and the general population.