Parents often ask why so little has been done to help understand the cognitive problems of people with Down syndrome. The answer is quite simple: scientists in the past believed that Down syndrome is too complex and difficult to understand, let alone be conducive to treatments. As a direct consequence, few investigators feel secure enough to embark on studies of Down syndrome.
And because National Institutes of Health (NIH) funding is driven by investigators' interests, the lack of excitement among researchers has resulted in relatively little funding to understand and treat Down syndrome.
We know that Down syndrome is caused by extra genes located on a third copy of chromosome 21. The
Human Genome Project helped scientists identify all the genes on this chromosome. In theory then, an extra copy of specific genes will be linked to specific problems. It should be possible to demonstrate these linkages and explore ways to alleviate their effects.
In the most optimistic analysis, "all" that needs to be done now is to identify the genes that are associated with cognitive impairment in Down syndrome, define how they cause problems, and try to reduce these genes' actions to a normal level.
Two essential elements will propel Down syndrome research to the forefront:
- An inspiring environment to attract the best scientists and clinicians
- Funds to support their work
The first element is in place. UC San Diego offers the ideal environment for connecting great science with cutting edge research and turning that knowledge into treatment therapies that can improve the quality of life for individuals with Down syndrome and their families.
The second element involves you. Your support can take us that much closer to realizing what once seemed only a dream.
For more information about making a gift to support Down syndrome research and treatment, contact:
Director of Development
UC San Diego Health
Give online now.
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