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Research focuses on extra chromosome of those with Down syndrome

Research focuses on extra chromosome of those with Down syndrome

| Aug 27, 2013 | Social Security Disability |

While there is certainly a push in the medical community to help treat some of the medical conditions that come with having Down syndrome, parents, ethicists and advocates are also quick to say the goal should not be to “cure” the genetic disorder.

“If Down syndrome were completely cured, the world would lose something from the absence of that culture,” medical geneticist Dr. Brian Skotko said after news of research to “turn off” the genetic defect was discovered. “There is something positive that people with Down syndrome contribute to the world.”

The finding was announced last month by a group of university medical school scientists. In a lab dish, these scientists were able to show the process of turning off the extra chromosome responsible for Down syndrome.

In looking at the recent finding, Jeanne Lawrence, who led the research, said this will most likely not lead to a “cure” for Down syndrome, as the genetic condition is one that happens at conception. Rather, the idea is this type of research may lead to a better understanding of the syndrome and better treatment of the medical conditions that tend to accompany the disease, such as congenital heart disease. 

In addition to heart defects, those with Down syndrome also have an increased risk of respiratory and hearing problems, thyroid conditions, childhood leukemia and Alzheimer’s disease. 

For those living with Down syndrome, while the research may offer hope for the future in terms of treating some of the conditions that tend to come with the disorder, as was mentioned, this is not a “cure” for the disorder. And, going by the mixed reactions to the research, there is not anything saying a cure is what is needed. 

Rather, a better understanding, more support and better treatment of certain medical conditions that tend to come with having Down syndrome is the direction this research appears to be taking. 

Source: Deseret News, “Scientists find it is possible to ‘silence’ chromosome that causes Down syndrome,” Chelynne Renouard, Aug. 12, 2013