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This
has been a great year to be in the field of Down
syndrome research. Fabian Fernandez, a doctoral candidate
at the Neuroscience Institute at Stanford University,
who is pursuing his Ph.D. in the laboratory of Dr.
Craig Garner, has published a landmark paper in the
scientific journal Nature
Neuroscience in which this team has shown that some of the memory
and learning deficits in an important mouse model of Down syndrome,
known as Ts65Dn, can be reversed with chronic treatment with low
doses of certain drugs that are known to produce seizures in animals
and people. Even though the potential clinical use of such drugs
is questionable, given their ability to produce seizures, this study
was important as proof of principle that drug treatments may in fact
reverse some of the memory and learning deficits in an animal model
of Down syndrome.
Mr.
Fernandez (who is expected to be Dr. Fernandez by
late October) applied and was accepted for a postdoctoral
position in my laboratory. I firmly believe that
Fabian will be a great addition to our research team
and, in the mid-term future, he himself is sure to
become a leader in the field of Down syndrome research.
To support his postdoctoral training in my laboratory,
Fabian and I wrote a grant application to the Lejeune
Foundation in Paris, France, which has been funded,
albeit at a lower level than requested. Still, having
been awarded this grant from the Lejeune Foundation
was particularly rewarding because this is a highly
competitive international peer reviewed multiyear
award.
More good news has come in the form of a new paper
that is to appear in a couple of weeks in the journal
Neuropsychopharmacology, which is also part of the
Nature Publishing Group. This paper describes some
of the preclinical research done by my research team
on Ts65Dn mice using an FDA approved drug. In contrast
to the work done by the Stanford team, this drug produced
an acute enhancement of learning and memory in these
mice.
In
addition, we have just been informed of the approval
of a $200,000 Investigator Initiated Grant application
to the Forest Research Institute. With this new grant,
a team of physicians and psychologists under my leadership
at The Children's Hospital of Denver, will be in the unique situation of actually translating knowledge acquired from basic research into a placebo-controlled double-blind clinical trial. I
believe this is the most important work I am currently
involved in. Not only from the practical aspect of
actually testing the effect of a real drug on real
neuropsychological measures in real people, but also
as a validation of the mouse model as a platform
to screen for potential therapies for cognitive disabilities
associated with Down syndrome. Within a couple of
weeks, we should have the clinical protocol submitted
for approval through the Colorado Multiple Institutional
Review Board (COMIRB). This means that, within two-to-three
months, we expect to start recruiting subjects for
this research.
These
are especially exciting times for someone who is
both a scientist and a father of a child with Down
syndrome like me. Once again, I would like to thank
the MHDSA Board of Directors and the MHDSA membership
for helping making possible the basic research that
has made this clinical trial a reality.
Alberto Costa, M.D., Ph.D.
Associate Professor of Medicine and Neuroscience
Division of Clinical Pharmacology and Toxicology
University of Colorado Health Sciences Center
(Also the father of Tyche, a 12-year-old-girl with
Down syndrome)
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"These are especially exciting times for someone who is both a scientist and a father of a child with Down syndrome like me." 
Over
the last year, my laboratory has gone through a transition from
the Eleanor Roosevelt Institute at the University of Denver to
the University of Colorado at Denver and Health Sciences Center
(UCDHSC). This move has provided a more stable and diverse environment
to conduct both basic and clinical research in Down syndrome. The
Mile High Down Syndrome Association has played a critical role
in enabling this transition by providing a $25,000 grant to support
my research program in its first year at UCDHSC. Other important
sources of funding during this period included the Anna & John
J. Sie Foundation, the Coleman Institute for Developmental Disabilities,
the Colorado Springs Down Syndrome Association, and the National
Institutes of Health.