191 Countries will participate in raising awareness on March 21, 2012

Global Down Syndrome Foundation, Linda Crnic Institute for Down Syndrome invited to speak at United Nations’ Down Syndrome Conference

Tuesday, July 3, 2012

Letter from Tom Blumenthal, Executive Director at Linda Crnic Institute for Down Syndrome

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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