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Thursday, 18 July 2013

'Silencing' the additional Chromosome 21: new 'revolutionary' research

A major breakthrough in research into Down syndrome has been widely reported in the specialist and general media today, following publication of a significant study at the University of Massachusetts Medical School, in the scientific journal, Nature.  

Referred to as 'revolutionary', 'groundbreaking', ' a real advance' and a 'landmark study', this work is stimulating discussion, debate and interest within the Down syndrome community worldwide. All reports caution that while it is a very important step, it is still laboratory science, several years from human trials, and not a 'cure' for Down syndrome. 

Below are links to the research paper, news reports and some commentary published so far.  There is bound to be more:

Translating dosage compensation to trisomy 21
Jun Jiang, et al, Nature (2013) doi:10.1038/nature12394, published online 17th July 2013
... Successful trisomy silencing in vitro ... surmounts the major first step towards potential development of ‘chromosome therapy’.

Researchers turn off Down’s syndrome genes
Beth Mole, Nature News, 17 July 2013
The insertion of one gene can muzzle the extra copy of chromosome 21 that causes Down’s syndrome, according to a study published today in Nature1. The method could help researchers to identify the cellular pathways behind the disorder's symptoms, and to design targeted treatments.

“It’s a strategy that can be applied in multiple ways, and I think can be useful right now,” says Jeanne Lawrence, a cell biologist at the University of Massachusetts Medical School in Worcester, and the lead author of the study.

Down Syndrome’s Extra Chromosome Silenced in Lab Cells
Elizabeth Lopatto, Bloomberg News, 18th July 2013 
(reprinted as a tablet-only edition by the Sydney Morning Herald, 18th July 2013)
“It’s a technical tour-de-force,” ... While the findings aren’t a cure for Down syndrome, they make what was once a mysterious disorder much easier to study ...

In laboratory dish, researchers shut down extra chromosome that causes Down syndrome
Carolyn Y. Johnson, Boston Globe, 17th July, 2013
(Abridged version - full text is available to Boston Globe subscribers only)
Researchers at the University of Massachusetts Medical School have shown that it is possible to do what had once seemed unthinkable—shut down the extra chromosome that causes the developmental problems and intellectual disabilities in people with Down syndrome ...
.... “It really is revolutionary, in terms of causing us all to rethink the one impossible thought—can you make, functionally, that extra chromosome disappear,” said Dr. Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital, who was not involved in the new study. “I don’t think any of us thought it was possible or even within the current realm of scientific dreaming that we might one day be able to do it.”

Researchers ‘Silence’ The Chromosome Defect That Causes Down Syndrome
Carey Goldberg, CommonHealth, 17th July 2013
The journal Nature reports today that researchers may have found a way to correct the chromosome defect that causes Down syndrome, though it will be years before it could possibly be tried in humans.

Helen Briggs, BBC News, 17th July 2013
"... we have made it conceivable - not necessarily possible or effective, that still needs to be proven - but conceivable that you could use just a single gene to correct the over-expression of the whole chromosome. So it makes genetic therapy for Down's syndrome more conceivable where it really wasn't before."

Commenting on the study, Carol Boys, chief executive of the Down's Syndrome Association (London), said it was exciting new research from a very well-respected team.

  • Dr Brian Skotko, Co-Director Massachusetts General Hospital Down Syndrome Program, who has provided some of the commentary quoted above, and is a well respected member of the Down syndrome community, has provided useful information and links on this research through his Facebook page.

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