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Rare diseases: a challenge for science

Published on 05/21/2014 in Scientific research

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Valérie LEGOUT, head of research at the Jérôme Lejeune Foundation, is taking stock on research on rare diseases.

“Rare diseases are at the heart of research at the Jérôme Lejeune Foundation. In 2013, over 45 scientific research files received a 30 000€ fund per file. This represents a total of over 13 million euros dedicated to research throughout the world. Out of the 45 files, 26 deal with rare diseases (in addition to the files on Down Syndrome).

Before speaking more specifically about the research projects promoted by the Foundation, it is important to be reminded that there has been a true revolution in scientific research these past years.

Technique can be quoted as the first major evolution. The mechanisms of exploration have been considerably improved; on a computer level as well as on a biological and engineering one. Mathematical calculation has also made a lot of progress: the time when simple tests were carried out is long gone and we are far past microscope analysis. Let’s take the analysis of the genome as an example; it is a very elaborate technology which demands technical training before one can use the machines but one must also be trained in order to be able to exploit and analyse the results so as to be capable of replacing them in the patients’ context. The research programmes are the fulfilment of transversal work bringing together statistics, mathematicians, biologists and epistemologists, geneticists and clinicians. As many specificities for one single examination requires more and more versatility and competences.

The second revolution is the cost of research. It is also constantly decreasing: it has been estimated that genome sequencing of a person coast 1.7 billion euros in 2003. Thanks to progress its cost has currently gone down to 700€! There is therefore tremendous hope for the comprehension and the possibilities of analysis of rare genetic illnesses.

The conjunction of both these factors gives research a lot of hope: we are faced with an exponential growth in discoveries and comprehension of genetic mechanisms. There has never been so much progress made as during these past five years!

In this context and since the beginnings of the Foundation, the research projects on rare diseases are of crucial importance to the Foundation! I would like to go over the importance for the Foundation of supporting research projects by giving them subventions: we select the projects that explore the scientific hypothesis which will help to better understand the general knowledge of a pathology or of a particular mechanism.

Certain rare diseases are greatly important on a scientific point of view as they enable scientists to better understand other diseases because of similar or opposite mechanisms. Thus, by studying rare diseases, our knowledge on other diseases is reinforced and the possibility of finding a treatment greater.

Thus, during the selection for research projects, it is necessary that the project explores the genetic intellectual diseases by describing the hypothesis and the various validation or invalidation steps of these hypothesis.

Two examples, one of which resulted in the CBS in 2013. The Cbs is an enzyme present in neurons, and which overexpresses in certain rare genetic diseases as in Down Syndrome. This overexpression of the CBS could party explain intellectual retardation. The Foundation partly funded the research work in order to confirm or infirm this hypothesis. Researchers managed to create a mouse which caused the CBS enzyme to overexpress: a remarkable exploit! It was then necessary to carry out tests in order to evaluate the mice in environment, to be able to determine the impact of the overexpression of this enzyme. This enabled the researchers to confirm the hypothesis and demonstrate the importance of the CBS as being one the causes of intellectual disability: this was communicated during a European congress on genetics in 2013. This important contribution was the object of a special distinction in November 2013 during the international Sisley-Jérôme Lejeune Award ceremonial given to Yann Hérault, author of this discovery.

Currently the Foundation is funding a research programme on diseases associated to anomalies of the metabolism due to vitamin B12: by understanding the consequences and perspectives of the vitamin B12’s influence in rare genetic diseases, these studies will enable all researchers to access a more global understanding of all people, ill or not. This study will enable researchers to better understand the mechanisms which still remain unknown and will probably help to ameliorate the quality of life and health of many people.

That is where the whole interest of developing research on rare diseases lies. And in order to do so, the Foundation needs your attention and support to fund research.”


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