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Dr. Roger Reeves, 2012 Sisley-Jérôme Lejeune Prize Winner, Significantly Advances Understanding of the Biology of Down Syndrome Leading to New Avenues of Research
Date:9/12/2013

érôme Lejeune Foundation USA Scientific Advisory Board commented that this is "Interesting and important work raising the possibility that Shh signaling deficits feature in the cerebellar and hippocampal abnormalities in a mouse model of DS”. Dr. Mobley believes that “The work will stimulate new studies as to how this signaling pathway is impacted”, and further commented that, “While the authors do not envision the agent they used in mice would be appropriate for clinical studies in humans, they point to the possibility that similar pathways may be therapeutically targeted in people with Down syndrome."

Dr. Reeves’ announcement follows other recent developments in this area of research. In July, Dr. Jeanne Lawrence of the University of Massachusetts announced that her lab had silenced the extra 21st chromosome in human induced pluripotent stem cells by introducing the XIST gene. In November a team of researchers at the University of Washington announced similar news of a technique to remove the extra 21st chromosome in their lab. Also, on the clinical front, in July, a Japanese pharmaceutical company launched a clinical trial to test a drug usually used for Alzheimer's disease for the benefit of people living with Down syndrome, and even more recently, a phase 2a study has just begun on a drug developed by the Irish pharmaceutical company, Elan, which is hoped will improve everyday cognitive function of individuals with Down syndrome.

The Sisley - Jérôme Lejeune Prize has been awarded to leading researchers since 2010. It is intended to acknowledge significant contributions and personal commitment to improving the lives of those living with genetic intellectual disabilities, and to bring notoriety and encouragement to them in their work. The first prize was given to Dr. Mara Dierssen of the Center for Genomic Regulation in Barcelona in 2010, Since then, American researchers have been the recipients. Dr. Wiliam Mob
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