AURORA | As a troupe of ballerinas with Down syndrome prepared for their performance in the Children’s Hospital Colorado atrium, Sandy Wolf was a bit overwhelmed.
Seeing dozens of children and adults with Down syndrome dancing, laughing and playing in the packed atrium was a welcome sight for Wolf, who was presented with the Global Down Syndrome Foundation Community Leadership Award last week.
“It makes them people, not an illness,” she said. “That’s what I like. These children are thinking, capable young people who have desires and wants just like every other child.”
Wolf, whose Melvin and Elaine Wolf Foundation is the primary underwriter of the Be Beautiful Be Yourself Dance Class with the Colorado Ballet, was one of several people honored for their work last week on World Down Syndrome Day.
Beyond the celebration, the event also saw the announcement of more than $1 million in research grants from the Linda Crnic Institute for Down Syndrome.
The grants, which total $1.3 million and went to 14 University of Colorado researchers, aim at making life better for Down syndrome patients, a group that has a higher likelihood of a long list of diseases, including leukemia, autoimmune disorders and Alzheimer’s.
Dr. Tom Blumenthal, executive director of the Crnic Institute, said the Crnic Grand Challenge Grants mark a new way of doing research.
The doctors chosen have specialties other than Down syndrome, but are turning their research skills and expertise on issues related to the syndrome.
“We’re gathering together the best brains around to work on Down syndrome in addition to whatever they are working on,” he said. “It’s a new model for doing science, it’s a new way of funding research in a cooperative way so that we can work together to solve what we see as the most important problems.”
Crnic hopes to dole out the grants every year. The money is aimed at filling a gap in research on the subject. Although one in 691 babies born in the United States have Down syndrome, grant money for Down syndrome-focused research lags behind, making it one of the least-funded genetic conditions funded by the National Institutes of Health.
Blumenthal said the initial plan was to give out 10 grants totalling $1 million, but once officials looked at the applications and the groundbreaking and meaningful research proposed, they decided to expand to 14 researchers totalling $1.3 million.
“The decision on which grants to fund was incredibly difficult because of the diverse, meaningful research proposed by the scientists,” Blumenthal said.
Several of the grants were given to researchers at the University of Colorado School of Medicine at the Anschutz Medical Campus.
One of those, Dr. Richard Spritz, a professor of human medical genetics at the school, has spent the past 30 years studying diseases having to do with pigment, such as albinism and vitiligo, an auto-immune disease where the body fights against natural pigments.
Spritz said about more than half of Down syndrome patients will go on to develop an auto-immune disorder such as thyroid disease, celiac disease and type 1 diabetes.
“It turns out that DS involves more problems than many people realize,” he said.
Through his research, Spritz has pinpointed a gene on chromosome 21 — the extra chromosome in Down syndrome patients that causes the condition — that contributes to autoimmune diseases.
The hope is by determining which gene causes those autoimmune disorders, scientists can pinpoint which Down syndrome patients have the gene and thus need early surveillance and treatment.
“This is kind of a holy grail,” he said. “No one actually knows any specific gene that causes any part of Down syndrome.”
Another researcher at the school of medicine is Dr. James DeGregori, a professor in the department of biochemistry and molecular genetics.
DeGregori’s lab has spent 15 years focused on leukemia and will turn that expertise to Down syndrome and why leukemia is so common among people who have the condition.
“There is a very high risk for leukemia among this group,” he said.
Depending on the particular type of leukemia, patients with Down syndrome are between 50 and 500 times more likely to contract the deadly form of cancer, he said.
DeGregori hasn’t studied Down syndrome before, but the link between the condition and leukemia has effected him personally. His cousin who had Down syndrome died of leukemia.
The hope, DeGregori said, is that researchers can figure out why the rate of leukemia is so high in this particular group.
“It would explain an association that so far has not been well explained,” he said. “No one really knows why Down syndrome is associated with more leukemia, but this could provide an explanation for that.”
With that explanation in hand, hopefully doctors can set out to counter the disease in Down syndrome patients, he said.