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Experts discuss future of public health research on Down syndrome

August 20, 2015

Additionally, nearly 80 percent of fetuses with Down syndrome are lost before birth.

The Centers for Disease Control (CDC), in partnership with the National Down Syndrome Society, convened a meeting of experts to review the current knowledge of Down syndrome, identify information gaps and develop priorities for future public health research. The results are published in the American Journal of Medical Genetics Part A. The public health research priorities identified at the meeting focused on developing a better understanding of the health problems faced by persons with Down syndrome, as well as best practices for screening and treatment of the condition.

Other important areas identified for future public health research included the better characterization of the natural history of cognition and language development, improved understanding the impact of educational and social services and supports, effects of aging in persons with Down syndrome and the reasons behind the racial and ethnic disparities seen among persons with Down syndrome.

"This new agenda will guide future public health research for Down syndrome, which will ultimately help us to learn more about this condition," says Dr. Sonja Rasmussen, senior scientist at CDC's National Center on Birth Defects and Developmental Disabilities. "Our hope is this research will improve the lives of people with Down syndrome and their families."

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"Understanding how the RNA polymerase gene transcription 'machine' is activated, and how it is stalled from working when it is not needed, gives us a better insight than ever before into the inner workings of cells, and the complex processes that occur to facilitate the carefully regulated production of proteins."

Professor Martin Buck, Head of Imperial's Division of Biology and one of the paper's co-authors, adds that understanding how this process works in bacteria cells is of particular interest, because it is this gene transcription and protein production process which allows bacterial cells to adapt, respond and thrive despite changes in their environment:

"In other words, this is the process that occurs inside bacteria that makes them so good at survival. Many bacteria cause infection and disease in humans, and are hard to defeat. Bacterial RNA polymerase is a proven target for antibiotics such as rifampicin, against which many bacteria have become resistant. Insights gained form our research will now provide opportunities and strategies for the design of novel antibacterial compounds," he concludes.

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