Research at the Linda Crnic Institute for Down Syndrome
Notes from Tom Blumenthal, PhD, Executive Director, 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.
Scientists estimate approximately 50% of people with Down syndrome will develop early-onset Alzheimer’s disease. LCI is underwriting Dr. Alberto Costa‘s first human clinical trial of the drug Memantine in adults with Down syndrome. Memantine, an FDA-approved drug traditionally used to treat the early symptoms of Alzheimer’s disease, has shown increased cognitive performance in mouse models of Down syndrome.
Utilizing high-density genomic microarrays, Dr. James Sikela’s copy-number variation studies are currently investigating the hypotheses that there is a single gene on chromosome 21 responsible for the congenital heart disease that occurs in up to 50% of people with Down syndrome. The study is in collaboration with Dr. Roger Reeves from Johns Hopkins University. This LCI-funded work has the potential to identify therapeutic targets for the approximately 2,500 babies born with Down syndrome and CHD, as well as the estimated 30,000 typical babies born with CHD each year.
Some studies show sleep apnea (a condition when breathing stops many times during sleep) occurs in more than 70% of children with Down syndrome. Yet most children with Down syndrome go undiagnosed. Untreated, sleep apnea can cause memory problems, weight gain, high blood pressure and other cardiovascular disease. LCI’s Dr. Fran Hickey is researching frequency, potential therapies for people with Down syndrome, and aims to measure short and long-term effects on cognitive performance.
LCI’s Pat Winders, Senior Physical Therapist and Down Syndrome Expert, along with her colleagues, are studying the motor skills of children with Down syndrome in order to develop better physical therapy approaches that could potentially help with core balance and excel learning associated with early motor development.
Evidence Base for Practice
Dr. Fran Hickey is working on a literature search to identify what is known about clinical best practices for children with Down syndrome, what best practices may be known but need to be applied, and what areas need additional investigation.
Katheleen Gardiner, PhD, built and maintains a database that consolidates information on the function and expression of all genes on the 21st chromosome. The eventual goal of this database is to correlate individual genes with the physical, cognitive and behavioral traits of Down syndrome. This may also assist in finding safe, effective drug therapies for the medical and cognitive ill effects associated with Down syndrome. Of the 15 scientists working in the field of Down syndrome surveyed, 100% rated this as a “5″ on a scale of 1 to 5 in terms of importance to their research.