Optimistic Breakthrough into the Genetic Defect that Causes Down Syndrome
In a recent study published in Nature, a team of scientists recently announced that they have been able to successfully correct the genetic abnormality that causes Down syndrome. To be clear, these results were based on work with isolated cells and this breakthrough doesn’t represent a “cure” for Down syndrome as we know it, but it is a major step toward a better understanding the condition and potentially treating many of the serious health effects that can accompany the condition, such as heart defects, thyroid problems, and more.
Down syndrome is a recognizable condition that typically results in diminished cognitive and intellectual ability as well as physical growth impediments. Caused by the presence of an extra copy of genetic material in one of the chromosomes in the body, the specific effects of this condition vary widely from individual to individual. Yet, regardless of the extent of genetic abnormality, there is no denying that an individual with Down syndrome will have developmental problems.
The reason that this study is so exciting is that doctors for the first time have been able to essentially silence this extra set of chromosomes in the laboratory, providing the alluring prospect of eventual gene therapy to mitigate the condition altogether. To be sure, full treatment is years if not decades away and the overall efficacy of gene therapy continues to be contentiously debated, but for now perhaps the biggest benefit to this research is that it can help doctors begin to develop unique treatments for individuals with Down syndrome who suffer from common health issues associated with this condition, lengthening and improving quality of life in the process.
If nothing else, this breakthrough speaks to the rapid advancements that the medical community is making in regard to understanding human genetic makeup and gives hope for the future surrounding Down syndrome and other similar conditions.