I thought I would take a few moments to introduce
myself. I have recently assumed the
position of Executive Director of the Linda Crnic Institute for Down Syndrome having
just completed a second term as Chair of Molecular, Cellular and Developmental
Biology at the University of Colorado, Boulder.
Before I came to Boulder, I was Chair of Biochemistry and Molecular
Genetics at the University of Colorado Health Sciences Center for eight years,
and before that Chair of Biological Sciences at Indiana University,
Bloomington, for many years.
I have spent my entire scientific career so far doing basic
research, primarily on various aspects of gene expression and on the
arrangement of genes on chromosomes.
Indeed, my lab in Boulder is currently studying various aspects of RNA
synthesis and will continue to do so during my tenure as Executive Director of
the Crnic Institute. So while I’m no
stranger to either academic administration in general or to the Health Sciences
Center in particular, I am new to studying Down syndrome. However, I believe I am in a unique
position to lead the Crnic Institute in its effort to eradicate the medical and
cognitive ill effects associated with Down syndrome.
Let me tell you a bit about my vision for research at the Crnic
Institute and the direction in which I plan to take it. Currently the Crnic Institute is housed on
the fourth floor of Research Complex II on the Anschutz Medical Campus. While a
minimal level of science is currently occurring in that space, that situation
will not last much longer. First, Professor Huntington Potter has very recently
moved his lab into Crnic Institute space. Hunt, a specialist in Alzheimer’s disease,
will be a member of the Department of Neurology and part of the Crnic Institute
scientific team. Second, we already have
one of the world’s foremost investigators who studies Down syndrome in the
Department of Pediatrics here at the School of Medicine, Katheleen
Gardiner. Her lab will be moving into
the Crnic Institute space. In addition I hope to recruit one additional Down
Syndrome Researcher from another university into the Crnic Institute space, and
I will initiate additional Down syndrome projects there as well. That should rapidly fill up our space.
In addition to the investigators performing their research
in the Crnic Institute itself, I plan to dramatically increase the amount of
research on Down Syndrome being performed at the University of Colorado, at
both the Denver and Boulder campuses, by initiating a grants program. The
Scientific Advisory Board of the Crnic Institute will issue a series of Grand
Challenges, requests for proposals from researchers in Colorado who are
interested in working on key issues on the causes of Down syndrome or in
developing therapies to ameliorate the ill effects, especially medical and cognitive
deficits. Furthermore, I believe the research
benefitting people with Down syndrome has the potential to make very
significant contributions to our understanding of associated diseases,
including Alzheimer’s disease, cancer and heart disease. Once I looked into it, I was surprised to
learn the incidence of solid tumors is much lower in people with Down syndrome. Can we take advantage of that observation to
learn something important about causes of solid tumors? Thus, it is my hope we can make important
contributions in understanding Down syndrome itself. But wouldn’t it be
wonderful if we could also make important contributions to our understanding of
some of these associated issues by studying Down syndrome?
I, personally, have always been interested in how genes are
correctly regulated. There are at least
20,000 genes in the human genome, each of which must be turned on and turned
off very precisely at particular times in particular tissues and in particular
cells. It is absolutely amazing that
this can occur without errors in virtually all people, especially during
development from a fertilized egg into a human being. This occurs at least in part by precise
timing of activity of hundreds of regulatory proteins. In Down syndrome around
300 of the 20,000 genes, those on chromosome 21, are present in three copies
instead of the usual two, and some of these 300 genes encode regulatory
proteins. So it is not at all surprising
that development of people with Down syndrome is different. It is my hope by targeting our studies into
certain areas of research, we can learn a lot about which genes are important
in the occurrence of which medical and cognitive ill effects, and indeed we may
learn a lot about basic mechanisms of gene regulation by studying, in people
and in mouse model systems, what exactly is mis-regulated and why.
Why now? There is a
lot of talent at both the Anschutz Medical Campus and in Boulder, investigators
who are capable of making real contributions in these areas. Given the current tight federal funding
situation, these investigators might be interested in performing Down syndrome-related
research projects. I expect we can get
talented scientists really excited about doing so. But perhaps even more important, the
development of new technologies in recent years, especially in the fields of
genomics and proteomics make entirely novel approaches to our key questions
possible.
My plan is to use much of the funds available in the Crnic
Institute to provide opportunities for researchers to initiate new research into
the causes of Down syndrome as well as ways to benefit people with Down syndrome. While these investigators will remain in
their current research space, both at the Anschutz Medical Campus and in
Boulder, they will become members of the Crnic Institute (in addition to their
current affiliations) and will attend monthly scientific meetings with all Crnic
Institute members. I expect getting all
of this talent together frequently will allow all of us to make rapid progress
on our projects.
The avowed purposes of the Crnic Institute are to “eradicate
the medical and cognitive ill effects associated with Down syndrome by the year
2017” and “to significantly improve the lives of all people with DS and their
families and their communities.” My
intention is to accomplish those goals.
However, when exploring the unknown, you never know what you’ll
find. Explorers can’t really ever
promise anything. All we can promise is
that we’ll do everything we can, that we’ll leave no stone unturned, and that
everything we do will be directed at accomplishing that mission.
I believe it is time for research to finally start
benefitting people with Down syndrome and as outlined above there is reason to
be confident we can accomplish this. I
hope others will join the Crnic Institute in support of this mission.
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