Research perspective for Down Syndrome


KeenanmotambasThe word of the ambassador

The first emergency, in Keenan Kampas eyes, is medical research. By discovering the work of the professor Jérôme Lejeune, it seemed obvious to her that the support given to research is “the first thing that will help to change the way people see people with genetic intelligence diseases.”The ambassador thus perfectly understands the profound sense there is in the commemoration of the 20 years of scientific and ethical challenge of the Foundation. Keenan expresses in a very simple way the main objective of the Foundation’s action: treat and defend the most vulnerable is not possible without promoting and encouraging medical research. It is therefore very natural that she ends by highlighting the fact that “medical research is what is the most important”.

première urgence, aux yeux de Keenan Kampa, c’est d’abord la recherche médicale. En découvrant l’œuvre du Professeur Jérôme Lejeune, c’est pour elle une évidence que le soutien apporté à la recherche est « la première chose qui contribuera à changer le regard du grand public sur les personnes atteintes de maladies génétiques de l’intelligence ».


Those present at the congress of the International Jérôme Lejeune Days in Paris in March 2011 must remember the final words of Professor William Mobley who underlined the fact that research on genetic intellectual diseases is currently at a turning point.
« Today, he said, I am optimistic: we will manage to fight these diseases, even if it will still take some time.”

During these past 40 years, medicine has considerably improved the way it takes care of and treats people with genetic intellectual diseases, and, amongst other diseases Down Syndrome, thanks to the quality of the diagnosis of intellectual disability, the identification of its cause and importance and possible associated treatments. Adapted medical follow-up now helps to prescribe effective treatments that reduce the disorders related to intellectual disability and prevent complications and the worsening of the disability. But what about treating the patients’ mental disability which reduces their cognitive and reasoning capacities, depriving them of an autonomous life?

« We will find a way. It is impossible not to. It is a much less difficult intellectual effort than sending a man on the moon,” used to say Pr. Lejeune.

This famous physician, discoverer of the genetic origin of Down Syndrome and father of modern genetics, devoted his whole life to finding a treatment for Down Syndrome. As he did, the Jérôme Lejeune Institute and the Jérôme Lejeune Foundation, relayed by hundreds of researchers throughout the world, are continuing this quest to which the recent research advances and the first clinical trials bring tangible encouragements.

The objective of research is to find therapeutic solutions which diminish intellectual disability and increase the capacities of autonomy of the patients.

In order to achieve this therapeutic objective, research must pass three steps corresponding to three great complementary scientific fields:

The first is fundamental approach in order to understand the organism’s biological and biochemical disorders thanks to sequencing techniques (sequencing enables the scientists to identify the genes responsible for genetic intelligence diseases) and the contributions of molecular biology which enables researchers to interact directly on the genes, cells or molecules involved in the disorders that are observed.

Secondly, it must develop the tools for pathological modelling in order to observe in cellular models (IPS for example) and animal models (mouse and rat models which replicate the human chromosome 21) the mechanisms of genetic accidents and then suggest work hypothesis, confirm them and thus orientate research leads.

And finally, the field of research applied to man, which enables researchers to better understand these diseases and find effective treatments as well as methods of stimulation and re-education.

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