Gene-silencing could suppress genetic defect that causes Down syndrome

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For the first time in history, scientists have hard evidence that the underlying genetic defect responsible for trisomy 21, better known as Down syndrome, can be suppressed in laboratory cultures of patient-derived stem cells. The accomplishment was announced at last week’s American Society of Human Genetics 2013 annual meeting in Boston.

People with Down syndrome are born with an extra chromosome 21, which results in a variety of physical and cognitive ill effects. In laboratory cultures of cells from patients with Down syndrome, an advanced genome editing tool was successfully used to silence the genes on the extra chromosome, thereby neutralizing it, said Dr. Jeanne Lawrence, Professor of Cell & Developmental Biology at the University Massachusetts Medical School.

Dr. Lawrence and her team compared trisomic stem cells derived from patients with Down syndrome in which the extra chromosome 21 was silenced to identical cells from patients that were untreated. The researchers identified defects in the proliferation, or rapid growth, of the untreated cells and the differentiation, or specialization, of untreated nervous system cells. These defects were reversed in trisomic stem cells in which the extra chromosome 21 was muted.

Read the full, original story here: Gene-silencing strategy opens new path to understanding Down Syndrome

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