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Scientific
studies on Down syndrome occur in the research lab and examine
how the extra chromosome 21 affects individuals with Down syndrome.
Scientists have created a mouse model that mimics the effects
of having the extra chromosome. Using the mouse model, scientists
are able to target overactive genes and test drug therapies that
can reduce the activity of these genes to a normal level.
Clinical
studies on Down syndrome involve both mouse models and individuals
with Down syndrome. By testing functional abilities, researchers
gain a better understanding of the differences and develop tools
to test therapies and treatments.
Our first grant recipient, Dr. Alberto Costa, Associate Professor
of Medicine and Neuroscience at UCDHSC, conducts both scientific
and clinical studies. His studies are designed to lead to treatments
that will improve the learning and reasoning capabilities of individuals
with Down syndrome as well as practical therapies to better teach
fundamental skills such as reading. This is a start but we have to
do more to make a difference.
The practical implication of these efforts
is immense not only for people with Down syndrome but also
for society as a whole. It has been estimated that an increase in ability, health
and independence for people with Down syndrome could save over
$3 billion per year.
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"The
driving force of my work and the philosophy of my laboratory, is
the idea that the intellectual disabilities associated with Down
syndrome may at least be partially reversible." 