The development of an effective medical treatment for Down syndrome is not far away.
Making a significant breakthrough in the medical history, scientists have found the possibility of correcting the genetic fault in Down syndrome by deactivating the gene that causes the disorder.
Down syndrome is a condition where the baby possesses an extra chromosome, apart from the regular 46 chromosomes. This additional chromosome affects the normal development of the body and brain.
Dr Jeanne Lawrence and his colleagues from the University of Massachusetts Medical School, "switched off" the extra chromosome during the lab experiments they conducted on stem cells collected from patients. Though gene therapies have long been used to address the problems caused by a single defective gene, until date, there is hardly any effective solution for the problems caused by a whole chromosome, BBC reported.
During the experiment, the scientists used a tool known as zinc finger nuclease (ZFN) technology, to insert the gene XIST into a patient's stem cells. The gene XIST plays a major role in the deactivation of one of the two X chromosomes normally present in women, making it similar to that of the men.
At the end of their research, the scientists found that the XIST gene successfully silenced the additional chromosome 21 that causes the disorder and brought the gene expression levels back to normal.
"By contrast, genetic correction of hundreds of genes across an entire extra chromosome has remained outside the realm of possibility," lead author Jeanne B. Lawrence, professor of cell & developmental biology, said in a university news release. "Our hope is that for individuals living with Down syndrome, this proof-of-principal opens up multiple exciting new avenues for studying the disorder now, and brings into the realm of consideration research on the concept of ' 'chromosome therapy' in the future."
The findings are published in the journal Nature.
According to Centers for Disease Control and Prevention (CDC), nearly 6,000 babies in the country are affected by the disorder. Children with Down syndrome experience both physical and intellectual disabilities. According to the CDC, these children will benefit from therapies such as speech, occupational and physical therapy.
Watch researcher Jeanne B. Lawrence explaining the innovation below:
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