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Starting a 'supergroup' for Down syndrome research

Symposium announces annual $1 million in challenge grants to fund research, collaboration

10/19/2012
Tom Blumenthal makes a presentation at the First LCI Down Syndrome Symposium at Anschutz Medical Campus

By Chris Casey | University Communications

AURORA, Colo. - Through the work of the Linda Crnic Institute (LCI) for Down Syndrome and the institute's $1 million in challenge grants, "a supergroup" for Down syndrome research is being formed.

The announcement was made this morning by Tom Blumenthal, PhD, executive director of the LCI, at the First LCI Down Syndrome Symposium. The event, which will be an annual event, drew about 150 people to the Hensel Phelps Auditorium West.

The grant program, called the annual "Crnic Grands Major Challenge Grants," is funded by the Anna and John J. Sie Foundation, the Global Down Syndrome Foundation, the chancellors of the University of Colorado Anschutz Medical Campus and Boulder campus and the dean of the School of Medicine. The LCI will award grants of up to $100,000 a year to scientists across research disciplines at the Anschutz and Boulder campuses.

Blumenthal is optimistic about what the "Down syndrome supergroup" will achieve. "I believe we will attract the best and brightest scientists with innovative scientific proposals," he said. "Most important, we expect the science will clearly benefit people with Down syndrome."

Down syndrome affects one in every 750 live births in the United States, but is one of the least-funded genetic conditions by the National Institutes of Health. The LCI, and its funding partner, the Global Down Syndrome Foundation, aim to correct the disparity in funding as well as provide the best clinical care to people with Down syndrome and work to eradicate the condition's medical and cognitive ill effects.

Michelle Sie Whitten, director of the Global Down Syndrome Foundation and mother of a child with Down syndrome, said she was "shocked by the defunding of Down syndrome research." She said she is grateful for the support of her parents, Anna and John Sie, who started the LCI and the foundation, as well as the University of Colorado for its pioneering research. The LCI is the first academic home in the United States committed to research and medical care for people with Down syndrome.

"You should feel really proud about your campuses and where CU is going. We looked at other campuses (for the LCI, including Stanford and others," Whitten said. "We chose CU because of the great science, the great leadership and the great synergies here."

Blumenthal explained that the LCI is dedicated to solving the mysteries behind Down syndrome's cause as well as improving the lives of people affected by the condition. "If we can improve their average IQ by 20 points, for example, it would make a huge difference in their lives," he said. "It would impact their independence and quality of life."

Because people with Down syndrome have higher incidences of Alzheimer's disease and leukemia, research provides an opportunity to advance understanding of those diseases as well, Blumenthal noted.

"We're at the right place and right time to do this," he said. "There's a variety of new technologies that are available that we can answer questions now that we could not have answered a few years ago.... We can do it here because we have great scientists here and in Boulder who can do exciting projects."

Richard Krugman, MD, dean of the School of Medicine, welcomed the gathering to the symposium and lauded the model that Blumenthal has developed for LCI. "Engaging the faculty in this effort is a very smart thing to do," Krugman said. "I believe whatever this faculty puts its mind to doing gets done well. ... I think this has the potential for terrific outcomes for the children and adults who have Down syndrome and for all of us as academicians."

Nobel Prize winner Tom Cech, PhD, of CU-Boulder, personalized the condition of Down syndrome by sharing a story of a summer trip to Colorado when he was 11 with his uncle Melvin. "Like many people with Down syndrome, Melvin was high functioning and a much-loved and integral member of our family, but he did suffer from obesity and heart problems," Cech said.

He said that scientific research may uncover that it only requires a "small tweaking of physiology and metabolism to enhance the lives of people with Down syndrome."

Other symposium speakers included Katheleen Gardiner and Huntington Potter, PhD, of the LCI; Ben Tycko of Columbia University; and Roger Reeves of Johns Hopkins University.

Scientists seeking a grant must apply by Jan. 14, 2013, with decisions and funding to be made in March 2013.

(Photo: Tom Blumenthal, executive director of the Linda Crnic Institute, makes a presentation during the First LCI Down Syndrome Symposium at the Anschutz Medical Campus.)

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Contact: christopher.casey@ucdenver.edu

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