For many years, scientists believed that Down syndrome was too complex to understand, and they believed that there was no way to reverse or reduce the severity of cognitive impairment. However, via two distinct approaches, over the last decade scientists have made unprecedented progress towards identifying a treatment to ameliorate the cognitive impairment associated with Down syndrome.
The first approach is based on genetics. Scientific advances have made it possible to understand how specific genes are linked to specific abnormalities in the structure and function of the brain. Although the 21st chromosome has hundreds of genes, researchers believe that there may be only a handful that significantly impact cognition. Using advanced techniques and methods, researchers believe they will be able to isolate the effects of these specific genes and determine how their expression in the brain can cause problems with cognition.
The second approach is to study the endpoints of brain structure and function in mouse models. By investigating the physical differences and the resulting functional impacts, researchers are able to define specific mechanisms responsible for cognitive dysfunction. Once these are established, they can begin the process of discovering treatments that enhance brain function, including cognition.
Today Down syndrome is not too complex to understand and it is not too difficult or too late to treat.
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