Down syndrome
The cause of Down syndrome has been clear for nearly 50 years. People with Down syndrome possess an extra copy of chromosome 21 (called trisomy 21) in their cells, leading to both mental and physical developmental disorders.
The main source of risk – age of the mother at birth – is clear too. A woman at age 40 is nearly four times more likely to give birth to a child with trisomy 21 as a woman at age 35.
What’s not clear is exactly why Down syndrome occurs. It’s also unknown how the presence of the extra chromosome leads to symptoms such as slow growth, low muscle tone and mild to moderate mental retardation.
Although increased medical knowledge and societal awareness continue to improve the lives of individuals with Down syndrome, more progress is needed. Research into trisomy 21 promises to yield information about Down syndrome and many other aspects of development and chromosomal function.
Down syndrome research at The Jackson Laboratory
Research focuses on a mouse model for Down syndrome that assists research into aspects of behavior and cognition, vision, hearing and much more.
