UMass Med School Announces Down's Breakthrough
Scientists at the University of Massachusetts Medical School have discovered a naturally occurring chromosome “off switch” that can be rerouted to neutralize the extra chromosome responsible for Down syndrome, the school announced Wednesday.
The discovery provides the first evidence that the underlying genetic defect responsible for Down syndrome can be suppressed in cells in culture, or “in vitro,” according to a UMass statement. This allows researchers to study the cell pathologies and identify genome-wide pathways implicated in the disorder, a goal that has so far proven elusive, the statement said. That will improve scientists’ understanding of the basic biology underlying Down syndrome and may help establish potential therapeutic targets for future therapies.
Details of the study were published online in the science journal Nature.
“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,” said lead author Jeanne B. Lawrence, professor of cell and developmental biology. “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.”
Humans are born with 23 pairs of chromosomes, including two sex chromosomes, for a total of 46 in each cell. People with Down syndrome are born with three (rather than two) copies of chromosome 21, and this “trisomy 21” causes cognitive disability, early-onset Alzheimer’s disease and a greater risk of childhood leukemia, heart defects, and immune and endocrine system dysfunction, the UMass statement said. Unlike genetic disorders caused by a single gene, genetic correction of a whole chromosome in trisomic cells has been beyond the realm of possibility, even in cultured cells, according to the statement.
Down syndrome occurs in about one in every 800 live births, according to the National Association for Down Syndrome. The average life expectancy of those with the condition is 55 years, with many living into their 60s and 70s, the association says.
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