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Debating Down Syndrome Research --- Families Want Work To Provide Direct Benefits To Those With the Condition
Amy Dockser Marcus
September 6, 2005 | The Wall Street Journal

As interest in research into Down syndrome grows, so does a debate over what the focus of the work should be.

Medical researchers believe that studies of cancer in people with Down syndrome could lead to new strategies to treat or prevent the disease in the general population. Families of people with Down syndrome and advocacy groups for people with the condition want to make sure focus also remains on science that will provide a direct benefit to people with Down syndrome.

Some tantalizing new findings are suggesting ways to understand and treat the cognitive, speech and memory problems associated with Down syndrome. To keep the momentum going, parents of children with Down syndrome are stepping up fund raising and advocacy efforts to ensure that enough research remains focused on that.

Members of the National Down syndrome Society and the Down syndrome Research and Treatment Foundation testified before a congressional committee about the need to find ways to treat Down syndrome, a genetic condition that causes a range of physical and intellectual disabilities. It's part of a larger lobbying effort not only to get federal research funds for Down syndrome but also to shape the way federal education and health funding for Down syndrome is done so that it emphasizes areas that are important to the families.

Earlier this year, the groups, along with other Down syndrome advocacy organizations, researchers, and doctors, met to discuss the formation of a Down syndrome Research Coalition that, for the first time, would set a unified research agenda. Another meeting is scheduled to take place at the end of September. The National Institute of Neurological Disorders and Stroke held a workshop in February to identify and set Down syndrome research priorities for cognition. The advocacy community has also called for the National Institutes of Health to start a task force in the coming year focused on Down syndrome research that will get regular input from parents and advocacy groups.

The new push is already having results. Last year, the NIH allocated $250,000 over two years to increase production of a Down syndrome mouse model used in research projects on both cancer and cognition, as well as other areas. The Centers for Disease Control and Prevention is set to report next year the results of an epidemiological study that, for the first time, will attempt to get precise numbers of how many people are living with Down syndrome in the U.S., broken down by age and ethnic group. An estimated 350,000 people are believed to have the condition, but more precise data are needed in order to better monitor health problems, particularly as people with Down syndrome age. The CDC will launch a second study next year documenting the onset of developmental and health disorders that are often associated with Down syndrome, such as Alzheimer's disease and autism.

David Tolleson, executive director of the Atlanta-based National Down syndrome Congress, said he recognizes the need to demonstrate that Down syndrome research "has the potential to benefit the most number of people," as a way of ensuring greater funding. Scientists who research cognition issues frequently point out that their findings may also provide insights into the cognitive decline that accompanies Alzheimer's disease. But Mr. Tolleson says he wouldn't want research into cancer "to divert funds which could be used to sponsor research to help people with Down syndrome."

In April, during a hearing sponsored by a subcommittee of the House Committee on Appropriations, Vincent Randazzo, a board member of the Palo Alto, Calif.-based Down syndrome Research and Treatment Foundation, said scientists were working to identify specific genes or gene clusters that could cause cognitive dysfunction in the brains of people with Down syndrome. Such a discovery could be a first step in finding ways to ameliorate the condition. It is "reasonable and realistic to expect that some day treatments could be developed to improve learning, memory and speech," Mr. Randazzo, a parent of a boy born in 1998 with Down syndrome, told the committee. "This research provides the clearest avenue and best hope for treatments that will significantly improve quality-of-life for people with Down syndrome."

The foundation was part of a drive that raised $1 million last year to fund work being done at Stanford University's Center for Research and Treatment of Down syndrome. That center, along with other scientists at other universities, have done mouse experiments that demonstrated that the removal of an extra copy of a critical gene found on Chromosome 21 significantly improved the signaling of brain neurons. Most individuals with Down syndrome have three copies of Chromosome 21, compared with two copies in other people.

Roger Kafker, 43, one of the founders of the Down syndrome Research and Treatment Foundation and the father of a seven-year-old son with Down syndrome, says, "People with kids with Down syndrome view their kids as a gift, not a burden. But we think the key to making their lives more integrated into society is around improving learning and knowledge retention." Cancer protection is a fascinating and important area, says Mr. Kafker. But as a parent, when it came to funding research, "first things first," he said, "and to me, that means cognition."

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Down syndrome Research Some Web sites with information about issues and research related to Down syndrome:

-- Center for Research and Treatment of Down syndrome dsresearch.stanford.edu Run out of the Stanford School of Medicine, the site has information on research into Down syndrome and cognition.

-- CureSearch www.curesearch.org Run by the Children's Oncology Group and the National Childhood Cancer Foundation, the site lists trials focusing on Down syndrome and cancer.

-- Down syndrome Research and Treatment Foundation dsrtf.org Founded by the parents of children with Down syndrome, the foundation advocates for and supports research into cognition.

-- Laboratories of Julie R. Korenberg www.csmc.edu/csri/korenberg Information on projects related to Down syndrome being done by the lab, which plans to open a trial looking at heart disease in people with Down syndrome later this year.

-- National Cancer Institute cancer.gov The site lists trials focusing on Down syndrome and cancer.

-- National Down syndrome Congress www.ndsccenter.org Advocacy and support for families and individuals with Down syndrome.

-- National Down syndrome Society www.ndss.org The society sponsors research on Down syndrome, including cancer and cognition.