Scientists Show Silencing Extra Chromosome Responsible for Down Syndrome is Possible
Posted on July 22, 2013
Scientists at the University of Massachusetts Medical School have shown that the extra copy of chromosomes 21 responsible for Down syndrome can be silenced in the laboratory using patient-derived stem cells. The discovery provides the first evidence that the underlying genetic defect responsible for Down syndrome can be suppressed in cells in culture (in vitro). The scientists say the discovery "paves the way for researchers to study the cell pathologies and identify genome-wide pathways implicated in the disorder, a goal that has so far proven elusive."
Jeanne B. Lawrence, PhD, professor of cell & developmental biology at the University of Massachusetts Medical School and lead author of the study, said in a statement, "The last decade has seen great advances in efforts to correct single-gene disorders, beginning with cells in vitro and in several cases advancing to in vivo and clinical trials. By contrast, genetic correction of hundreds of genes across an entire extra chromosome has remained outside the realm of possibility. 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 research was published here in the journal, Nature.