Down syndrome is caused by an excess chromosome that is inherited by the child from their parents and makes the total number of chromosomes in the body cells 47, which is abnormal compared to the 46 chromosomes in a healthy child's body cells.
This extra chromosome which is present in the cells causes developmental delays in the body of the child. No one knows the exact reason behind the disease and similarly there are no proven ways to avoid or prevent the disease or cure it.
The chances of a child being born with down syndrome to a mother of 35 years of age is 1 in every 363 and the risk increases to 1 in 100 in mothers ages 40 or older.
An important breakthrough in Down syndrome research was carried out by Victor Tybulewicz at the National Institute for Medical Research and Professor Elizabeth Fisher from the Institute of Neurology at the University College London, where they successfully injected the disease in mice. They successfully added 90% of 250 genes into mice from human chromosomes which were responsible for causing Down syndrome in humans. These cells were further used to generate the strain of mice which were carrying the extra chromosome from the human cell. The mice showed the symptoms of disease similar to that of Down syndrome in humans.
Another breakthrough in Down syndrome research has been advances in prenatal screening. In January 2009, Lenetix Inc. made an announcement regarding an important development in the first and second trimester non-invasive fetal chromosomal screening test which is helpful in detecting Down syndrome and various genetic conditions.
At the 29th annual Society for Maternal-Fetal Medicine Conference held in San Diego, Lenetix presented the results of the preliminary study which pointed towards the potential breakthrough for testing accuracy and quality for Down syndrome.
Another strategy was developed at the Stanford University School of Medicine and Lucile Packard Children's Hospital for treating the defects caused by the disease. The research showed that the norepinephrine signaling in the brain of genetically engineered mice when boosted improved their cognition. The researchers also commented that the early intervention into the patient’s condition can help children with Down syndrome gain control over their condition. This also suggested that the intervention can also help children with the syndrome make improvements in their cognitive functions.
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