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Researchers put in the spotlight by the Foundation in Strasbourg

Published on 05/21/2015 in Scientific research

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On March 10th, during a one-off event the Sisley-Jérôme Lejeune Award and Young Researchers award were handed out by the Foundation in the European Parliament. According to Pr. Yann Hérault, president of the jury: “it has now become possible to hope that the living conditions of patients with genetic intellectual disabilities can be improved”.

Created as a reward for the major work carried out on Down Syndrome or other genetic intellectual diseases in a therapeutic perspective, the Sisley-Jérpôme Lejeune Award is a way of putting forward researcher’s work that has made the search for treatments progress.

The award show how much the Jérôme Lejeune Foundation and the Sisley Foundation wish to boost and make known therapeutic research by rewarding ambitious work carried out in the field of genetic intellectual diseases. Hosting the event in the European Parliament caused many parliamentarians from the Research and Health commissions to be moved.

Research on Fragile X rewarded by the Sisley-Jérôme Lejeune Award

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In Strasbourg, the jury of the international Sisley-Jérôme Lejeune Award was given to Professor Hagerman for her work. Randi Hagerman, laureate of the fifth edition and director of the MIND Institute in California, specialises in the research and treatment of genetic intellectual diseases. Highly qualified, she and her medical team found the gene responsible for Fragile-X tremor/ataxia Syndrome, which is a neurological disorder resulting from a premutation of the gene FMR1. At the same time, she worked on targeted treatments for Fragile X Syndrome by developing numerous therapeutic programmes.

Originating from an accident on the X chromosome, Fragile X Syndrome is the second cause for intellectual disability after Down Syndrome. It leads to intellectual disability that is quite often associated with autistic behavioural disorders as well as characteristic physical traits such as a long narrow face, prominent forehead and ears, abnormally supple fingers, and flat feet.

The intellectual problems are variable as are also the behavioural disorders that can be anything from very slight to severe, such as autism. Professor Hagerman demonstrated the effectiveness of a treatment based on minocycline on the premutation of the gene FMR1. The use of this molecule enables a clear improvement of the general state of children living with Fragile X Syndrome. These results are promising not only for this syndrome but also for other genetic diseases such as Angelman Syndrome.

Presided over by Yann Hérault, research director of the National Scientific Research Council (CNRS) and president of the Foundation’s scientific council, this fifth edition of the international Sisley-Jérôme Lejeune Award once again underlines the quality and vitality of therapeutic and fundamental research.

It was very important to show this to those in charge of research and health at Strasbourg. “Receiving the Sisley-Jerôme Lejeune Award means a lot to me, it is the acknowledgement of the work I have done”, said Randi Hagerman, before adding: “Financially, this award represents a fair amount that will help research. These are difficult times and the American federal agencies are cutting down on a lot of the financial sources, this award will be a significant help in research and will allow me to extend my field of study.”

Randi Hagerman once again expressed her support to young researchers in their long-winded work, encouraging them to find funds: “I would say to young researchers that it is primordial not to give up, even in times when it becomes hard to find the money. Don’t give up, look for new resources as well as the subsidies granted to you by the government: donations, sponsors, or foundations such as the Jérôme Lejeune Foundation where you can always ask for funds.”

Indeed, the major problem faced by young researchers is the lack of means: « without funds, it becomes impossible for them to carry on their research. » That is what the Jérôme Lejeune Foundation aimed at when it created the Young Jérôme Lejeune Researchers Award in 2010: encourage new vocations of researchers in the field of intellectual disability. Because today, in France, too few researchers go down that road. This field of investigation needs to be encouraged on a fundamental as well as on a clinical level.

Vocations of young researchers encouraged

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In Strasbourg, the Young Jérôme Lejeune Researchers Award was discerned to three French physicians to support their work on genetic intellectual disabilities and the therapeutic paths that need exploring: Julien Thévenon, Jilian Iafrati and Ricardos Tabet.

The first laureate, Julien Thévenon, from the reference centre for rare diseases of Dijon, was rewarded for his work on molecular and physiopathological bases of syndromes with development defects and intellectual disabilities. To the question: “Why encourage researchers to work on genetic intelligence diseases”, Julien Thévenon answers: “We need to concentrate more and more on intellectual disability.”

“It is obvious. Intellectual disability is a frequent condition that affects 2 to 3% of people during childhood. Besides, estimations report that 7 to 8% of adults are carriers of intellectual disabilities.” He then adds: “There are ways to make those diseases better, make diagnoses. Making an etiological diagnosis allows personalized care and treatment and therefore allows to better follow the evolution and improve the prognosis of the disease.”

The second laureate, Jilian Iafrati, first worked at the Mediterranean Neurobiological Institute (INMED) and then recently joined the San Francisco University of California. He was awarded for his work on prefrontal cortex dysfunctions in a murine model for psychiatric diseases.

Finally, the third laureate, Ricardos Tabet from the Institute of Genetics and Molecular and Cellular Biology was rewarded for his work on the molecular bases of the physiopathology of Fragile X Syndrome. The laureate showed himself grateful towards the organisers of the award: “The fact that there is an award for young researchers shows support towards research on rare neuro-genetic diseases in France.” He added: “I am also very honoured that the award was handed out to me personally by an Italian deputy. The Young Jérôme Lejeune Researchers Award comes as the acknowledgement of our work on an international scale. It is through rare neuro-genetic diseases that we will get answers to our questions and, I hope, that we will one day treat those in need.”

As this fifth edition comes to an end, twelve young researchers have already been rewarded. Most of them keep in contact with the Foundation and inform it of the progress of their work. They are a small group of highly talented scientists, who represent the future of French research in the field of genetic intellectual diseases and the hope of new therapeutic perspectives. The Foundation is thinking of new ways to help researchers.

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