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IJJD : « Scientists relate »

Published on 05/01/2011 in Scientific research

Dr. Marie-Claude Potier

Dr. Marie-Claude Potier, researcher at the CRNS, works in the brain and bone marrow research institute at the “Salpêtreière” in Paris. Trained as a pharmacologist, she has been working on Down Syndrome for over fifteen years. She used to be a member of the committee which organized the International Jérome Lejeune Days.

What were the scientific aims of the Jerome lejeune International Days’ committee?

The organizing committee wanted the congress to cover the totality of genetic illnesses and to speak about the various researches concerning them on several levels. The programme thus started with genetics, i.e., with DNA, went on to cell biology before moving on to imaging and therapy. Finally, it ended with the ongoing clinical trials. We have noticed there are common procedures; researchers really have a lot to gain in studying all the aspects of these mental illnesses.

HagermannProf. Randi Hagermann

Prof. Randi Hagermann, the Jérôme Lejeune International Days’ president, is a specialist in behavioural paediatrics. She works in Sacramento (United State).

Professor, what general impression do you retain after this scientist congress?

I have noticed that we really are making huge steps forward in the battle against mental handicap. I am also realising to what extent this congress enabled scientific collaboration to be reinforced. Indeed, whatever the intellectual disability one is studying, work on other diseases can give us new ideas.

How is research on Fragile-X going? You have been working on it for about Thirty years.

I believe we are on a very positive turn. The new treatment (see the Letter of the Foundation n° 17), which is being tested at the moment should diminish behavioural and intellectual disabilities for those people.


Prof. Roger Reeves

roger reevesProf. Roger Reeves, prof. at the genetic studies institute in Baltimore (United States), speaker during the IJJD

What struck you most during the scientific congress?

It is partly thanks to Prof. Jérôme Lejeune’s discoveries that we can lead all these researches on intellectual disabilities today. However, Down Syndrome does not get all the scientific support it should. Knowing that the consequence of Down Syndrome is a very complex genetic situation, it is necessary for an even larger part of the scientist community to mobilize.

What work did you present during the IJJD?

I worked on identifying factors which cause risk factors which may lead to heart pathologies or, on the contrary, which protect from various cancers in Down Syndrome. We have, indeed, found a gene that diminishes the risk of solid tumours to appear for people carriers of Down Syndrome . This research will actually be able to be extended to the general population as a prevention against cancer.

Prof. William Mobley, Neurobiologist at the California University in San Diego (United States). Member of the IJJD’s scientific committee and speaker.

Professor, answering the scientific committee’s demand, you concluded the International Jérôme Lejeune Days. What did you say?

After having publically recognized the success of the conference, which I found spectacular, I pointed out to my colleagues, that during the 2004 JIJD we had got so far as tying to better understand these pathologies and share the information. But this time, things have changed; first of all, by the number of scientists involved and secondly by the knowledge of the mechanisms we are studying and the quality of the tools we have at our disposal. We now need to work together, share new ideas and go down new paths. For years, we have benefited from the remarkable support of the Jérôme Lejeune Foundation. In the months and years to come, we will need to start involving, the private sector, i.e., the pharmaceutical industry. It also seems important to me to convince politicians and people in charge of the importance of these researches. I am optimistic: we will manage to defeat these diseases, even if it may take a long time.

Alexandra Henri CaudeDr. Alexandra Henrion Caude

Dr. Alexandra Henrion Caude, geneticist, researcher at INSERM, works in the Necker-Enfants Malades hospital, speaker at the IJJD.

What were you expecting from these International Jérôme Lejeune Days?

I was expecting scientific nourishment and the standard of the presentations and discussions was more than satisfactory.

What works of yours did you present during the session?

My current work is about a neurodegenerative disease, not yet listed, which causes childhood anorexia associated to intellectual disability. By studying the molecular aspect corresponding to these symptoms, I managed to identify a non-coding gene which, we were able to notice, can cause the death of neurons and, thus, explains the disorders observed in the children. With non-codant RNA, we are facing very small molecules, called microRNA, extremely easy to synthesise and extraordinarily specific in their field of action. I could, therefore, be a gateway leading towards therapy.

Family and attendants

Saturday, March, 26th, the IJJD for families and attendants brought together over 500 people. Prof. Piere Kamoun, president of the Foundation Jérôme Lejeune’s scientific council, presented a synthesis of the advancements in research that came up during the scientific congress. After that, specialists spoke about the current medical backup patients living with genetic intellectual disabilities benefit from.

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