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A new hope into research into Down syndrome

Published on 08/27/2013 in Press releases


Friday, 19 July 2013

The Jérôme Lejeune Foundation was particularly eager to see the results of the University of Massachusetts research team headed by Jeanne Lawrence

First of all because of the hope of inhibiting the third chromosome 21, responsible for Down syndrome, is again given support, and also, because this discovery shows how efficient scientific research into Down syndrome actually is.

Neutralisation of the 3rd chromosome 21, reinforced hope.

Jeanne Lawrence's research team published it in the Nature review on 17 July 2013: the team succeeded in "reducing, in vitro Down syndrome to silence". This individual research, therefore at a stage which is still fundamental, used cells from Down syndrome persons which were reprogrammed as induced pluripotent stem cells (as iPS cells discovered by the Nobel prize winner Pr. Yamanaka). The method consisted in inserting the "XIST" gene into one of the three chromosomes 21, which contribute to reducing the expression of the genes responsible for mental retardation by 20%. Accordingly, the inactivation of excess chromosome 21 is far from complete and in the same way as for every fundamental research step, application to the mouse, then to the human, is still a long way off. It does not prevent the Jérôme Lejeune Foundation, and the Down syndrome patients and their families from being overjoyed by this new research opening which confirms the perspective of neutralising the excess chromosome, a hope which first burgeoned in December 2012. 
This neutralisation was covered by a publication in Cell Stem Cell by David W. Russel's team at the University of Washington which succeeded not in "inactivating" the additional chromosome but in "inducing" its expulsion, once again, through induced pluripotent cells (iPS). 
At an interval of six months, there were therefore two discoveries on the American continent aimed at neutralising the third chromosome 21 responsible for the pathology. The hope that these two different methods succeed goes without saying.

Research into Down syndrome is advancing, because when you search you find … 

With this discovery, the Jérôme Lejeune Foundation can once again report that research into Down syndrome is intriguing researchers and bearing fruit. 
Just two years ago, there was absolutely no question of removing or inactivating the third chromosome 21 responsible for mental handicaps in persons with Down syndrome. And it has been done in vitro. If researchers are working so hard on this pathology and achieving encouraging results, it is because the demand is enormous, the hope is justified, and the means are given to them to progress. That makes it all the more unfortunate to see that the French political decision-makers do not see things this way, depriving French scientists of public funds for their research. That is why the Jérôme Lejeune Foundation is almost alone in supporting this research effort, but above all, in sharing the honour of being among those who are fighting against the disease.

The Lejeune Foundation welcomes the discovery of Jeanne Lawrence's team, backed by the publication of Professor André Mégarbané from the Jérôme Lejeune Institute, for the 50th anniversary of the discovery of Down syndrome by professor Jérôme Lejeune. Here is the first author mentioned in the Nature article.
Finally, while France has just adopted an authorisation for research which will destroy the human embryo, closing the door on the alternative of induced pluripotent cells (iPS), what more can be done to prove the importance of these cells which can do a lot for research into Down syndrome? The Jérôme Lejeune Foundation, which has made an enormous contribution to having France discover the work of Professor Yamanaka, starting in 2006, is once again proud to be able to confirm that ethics and science are progressing together.

Publication in the Journal Nature of 17 July 2013 : .

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