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

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The Jerome Lejeune Foundation congratulates Dr. Reeves for his research on the use of sonic hedgehog pathway agnoist in transgenic mice to normalize growth of the cerebellum is one more development in the acceleration of research in Down syndrome.

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The Jérôme Lejeune Foundation welcomes the results obtained by Professor Roger Reeves, recipient of the 2012 Sisley-Jérôme Lejeune Prize, recently published in the journal, Science Translational Medicine (Sept.4, 2013). This work marks another significant development in understanding intellectual disability, particularly Down syndrome, and pathways to the development of potential therapies to improve the lives of those affected by them. The Jérôme Lejeune Foundation continues its mission of supporting research into genetic intellectual disability, encouraged by the rapid pace of progress made by researchers in recent months.

In receiving the Sisley -Jérôme Lejeune award last November at the Museum of Medicine in Paris, Dr. Reeves announced to those present that his contributions were not completed, and that the best was yet to come. With his research team at Johns Hopkins University, and in partnership with researchers at the National Institutes of Health, he has announced the identification of a substance capable of normalizing the development of the cerebellum in a mouse model of Down syndrome with just a single injection. The result is improved memory and learning.

Dr. William Mobley, Chair of the Department of Neurosciences at the University of California, San Diego, and Chair of the Jérôme 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 Mobley from the University of California, San Diego in 2011 and Dr. Roger Reeves in 2012 . The fourth edition of the Sisley -Jérôme Lejeune Prize will be awarded on October 17 in Paris to two exceptional senior researchers, one French and the other American. Three young talented researchers will also be acknowledged.

ABOUT THE JEROME LEJEUNE FOUNDATION
The Jérôme Lejeune Foundation is the world’s largest private funder of research into Down syndrome and other genetic intellectual disabilities providing approximately $5 million annually to fund it’s own research program, clinical trials, and other researchers working in countries throughout the world to improve the lives of those living with genetic intellectual disabilities. Founded in Paris by the Lejeune family after the death of Jérôme Lejeune, the geneticist who discovered the genetic cause of Down syndrome, the Foundation’s mission is directed toward research, care and advocacy for those with genetic intellectual disabilities. The Foundation has offices in Paris and Philadelphia.

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Mark Bradford

Mark Bradford, President
@JLFoundation
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