Posts Tagged ‘Down syndrome research’

Down Syndrome Research Expanding Across the U.S.

August 7th, 2012 by Global Down Syndrome Foundation

The University of Arizona announced it has received more than $1 million in grant funding over the past four years as its Down Syndrome Research Group works toward being a leader in Down syndrome research. The funding came from the Down Syndrome Research and Treatment Foundation and Research Down Syndrome.

At the Global Down Syndrome Foundation, our primary focus is funding the Linda Crnic Institute for Down Syndrome at the Anschutz Medical Campus, and we’re encouraged by the expansion of research efforts across the U.S. and excited to see what comes out of the new efforts and the potential for collaboration. Because Down syndrome is the least-funded genetic condition by the National Institutes of Health, it is crucial to show that the need, desire and support exist to fund more research.

At the University of Arizona, faculty, staff and students will focus on a broad range of topics, from medical and health care issues to quality-of-life problems faced by those with Down syndrome and their families.

Like the Crnic Institute, which recently added renowned scientist Huntington Potter to focus on the link between Alzheimer’s disease and Down syndrome, the University of Arizona plans to give a lot of attention to that issue. Studies show that one the main genes responsible for Alzheimer’s disease is on the 21st chromosome and is therefore more active in people with Down syndrome, who have three copies of chromosome 21 instead of two.

A lot of progress has been made on care and research, but we still have a long way to go. News about this kind of funding highlights the growing support for the Down syndrome community. Let’s encourage each other to keep up the pressure for more government funding and spread the word about all the potential that research holds. You can reach our advocacy page here to learn more about how to contact your representative in Congress.

Research Evaluates Care for Adults With Down Syndrome

August 1st, 2012 by Global Down Syndrome Foundation

Kristin Jensen, M.D., M.Sc.

The scientists at the Linda Crnic Institute for Down Syndrome are producing groundbreaking research into the care and treatment of people with Down syndrome. Kristin Jensen, M.D., M.Sc., an assistant professor at the Crnic Institute, had two studies published this year in the Journal of Intellectual Disability Research that help identify how patients with Down syndrome are transitioning into adult-oriented health care from child-focused providers, and whether the primary care physicians of adults with Down syndrome are adhering to age- and condition-specific preventive care. Both studies were conducted before her arrival at the University of Colorado.

In research published July 10 (click here for the abstract of the study and information on accessing the full article), Drs. Jensen and Davis found that over half of the adults studied showed incomplete transition from child to adult medical care, which may be a troubling sign as people with Down syndrome live longer lives (the average life expectancy is now over 50). Many of these patients continued to see pediatric specialty providers. Despite accounting for indicators of clinical severity, the authors found that those patients who received a mix of child- and adult-focused care ended up with higher annual charges. This was felt to be a proxy for complexity of illness that is unable to be measured in retrospective studies.

In a study published March 28 (click here for the abstract of the study and information on accessing the full article), Drs. Jensen, Taylor and Davis looked into how primary care physicians at academic medical centers adhered to age- and condition-specific care for a cohort of adults with Down syndrome. This study found variable adherence to published guidelines within this cohort, but found no difference between the type of primary care physician (i.e.- Family Medicine or Internal Medicine). Additionally, less than half of the patients in this cohort received evaluations for obstructive sleep apnea or hearing or vision loss over an eight-year study, all of which are commonly seen among people with Down syndrome.

Both studies called for additional research into how these findings relate to patient outcomes.

The Linda Crnic Institute, founded in 2008, is the first academic home for Down syndrome research in the United States. It is located at the Anschutz Medical Campus in Aurora, Colorado.

Dan Hurley of The Washington Post has a great article about researchers’ hopes for eventually finding a drug to improve the verbal memory of people with Down syndrome, including a study funded in part by the Linda Crnic Institute for Down Syndrome at the University of Colorado.

A study in the journal Translational Psychiatry tested the effects of memantine, a drug approved under the name Namenda for the treatment of Alzheimer’s disease, on people with Down syndrome.

A trial conducted by Alberto Costa of the University of Colorado Denver and funded by the Crnic Institute, Forest Laboratories (the maker of Namenda), the National Institutes of Health and the Coleman Institute for Cognitive Disabilities involved 42 young adults with Down syndrome, with half receiving the drug and half getting a placebo over a 16-week period.

Although Costa’s study found no significant differences between the memantine and placebo groups on two primary measures, “we found a significant improvement in the memantine group in one of the secondary measures,” the study says.

Some scientists who specialize in Down syndrome research told The Washington Post they consider the results disappointing, but others noted that it’s the first time any improvement has been noted in a drug study.

“You can see it as a little study that had a little tiny effect, or as one of the greatest findings in Down syndrome over the past 10 years. Both are true,” Costa told The Washington Post, adding that he wants another, larger study of Namenda.

The full Washington Post article can be found here.

The study can be accessed here.