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Letter from the Executive Director

Tom Blumenthal, PhD
May 14, 2015  

Nearly three years ago, I assumed the position of Executive Director of the Linda Crnic Institute for Down Syndrome, having 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. While I am no stranger to either academic administration or to the Health Sciences Center, I am relatively new to studying Down syndrome. I have spent most of my scientific career doing basic research, primarily on various aspects of gene expression and on the arrangement of genes on chromosomes. Nonetheless, I feel 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.


How are genes correctly regulated? There are at least 20,000 genes that “code” for proteins 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. This can occur nearly error-free in most people, including during development from a fertilized egg into a human being, at least in part by precise timing of the activity of hundreds of regulatory proteins and RNAs. In Down syndrome around 200 of the 20,000 protein-coding genes, those on chromosome 21, are present in three copies instead of the usual two. Some of these 200 genes encode regulatory proteins, so it is not surprising that development of people with Down syndrome is somewhat less precise. 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. We may also learn about basic mechanisms of gene regulation by studying, in people and in mouse model systems, what is mis-regulated and why.


The Crnic Institute is housed on the fourth floor of Research Complex II on the Anschutz Medical Campus. We currently have two labs studying Down syndrome, in addition to mine. Professor Huntington Potter moved his lab from the University of South Florida at about the same time as I moved in 2012. Dr. Potter, a specialist in Alzheimer’s disease, is a member of the Department of Neurology. Professor Katheleen Gardiner, a long-time member of the Department of Pediatrics, is one of the world’s foremost investigators studying Down syndrome.


In addition to the investigators performing their research in the Crnic Institute, we have dramatically increased the amount of research on Down syndrome being performed at the University of Colorado by instituting a grants program. For the past three years and continuing annually, the Crnic Institute issued 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.


There is a lot of scientific talent at both the Anschutz Medical Campus and in Boulder, investigators who are capable of making real contributions in these areas. The current federal funding situation is extremely competitive and even serendipitous.  In addition, the development of new technologies, especially in the fields of genomics, proteomics, and super resolution microscopy are making novel approaches possible. Furthermore, research that benefits people with Down syndrome should aid in our understanding of associated diseases, including Alzheimer’s disease, cancer and heart disease. For example, the incidence of solid tumors and cardiovascular disease are decreased in people with Down syndrome. In contrast, the incidence of childhood leukemia, Alzheimer’s Disease and autoimmune diseases are increased. We should be able to gain important information about causes of solid tumors, leukemia and these other disorders from the study of Down syndrome. Thus, we should be able to make contributions in understanding Down syndrome, as well as some of these associated issues.


In the initial grants competition, we received 36 applications for support of Down syndrome-related research projects.  After careful consideration, a panel of six experts decided to fund 14 of these applications, eight from labs at the Anschutz Medical Campus and six from the Boulder campus, totaling $1,300,000. The following year, we received 33 applications and funded 12, six of which were renewals, and this year we received 31 applications, of which we funded 10, half of which were renewals. So whereas we had two or three labs working on Down syndrome in Colorado three years ago, we now have nearly 30. While these investigators remain in their current research space, they have become members of the Crnic Institute as well. These Principal Investigators and members of their laboratories working on their Down syndrome projects attend monthly scientific meetings that we term “Supergroups” along with the members housed in the Crnic Institute. These monthly meetings are designed to facilitate open communication between the lab members, hopefully resulting in rapid progress on our projects. We will provide at least $1,000,000 annually for the foreseeable future to continue and expand this program.


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 Down syndrome and their families and their communities.” Our intention is to accomplish those goals, but when exploring the unknown, one never knows what lies ahead. Explorers can’t promise anything; except that we will do everything we can to accomplish the mission. It is time for research to start benefitting people with Down syndrome, and there is reason to believe we can accomplish this. Please join us in supporting this mission.


Tom Blumenthal, PhD
Executive Director
Linda Crnic Institute for Down Syndrome