Valérie Legout is the Foundation’s international director for research. For the International World Down Syndrome Day, on the 21st of March 2014, she takes stock with us on the advances of the Foundation’s ongoing scientific research.
The Foundation funds international research projects, including on Down Syndrome. What are the ongoing research projects currently being financed?
I have been to see some of the researchers whose projects had received subventions from the Foundation. It is important that our collaboration becomes more than just financial, that we may share a personal relationship. It also helps directly in the realisation of these projects. I intend to suggest the Institute collaborates with the New York Rockefeller University in this way to help the inclusion of patients with Down Syndrome in order to better understand the reason this population has a high frequency of candidiasis (fungus)
The scientific hypothesis explored is genetic immunodeficiency carried by the chromosome 21, particularly expresses in Down Syndrome because there are three of them. The general idea is that once the underlying mechanism of a disorder has been found, it becomes possible to develop adapted therapeutic strategies.
The other news I have, is the visit we made to the team in Barcelona who is leading the clinical trial TESDAD, trial which is very largely subsidized by the Foundation. It is a clinical trial carried out on adult patients with Down Syndrome who are being treated over a period of 1 year with green tea extracts.
Though we haven’t yet received the end of year final results, the first results are very encouraging. We benefitted from this collaboration in two different ways: firstly a psychologist from the Spanish team is counting on coming to the Institute to meet the team and understand the work done in Acthyf and, mainly, the evaluation of intellectual functions in order to acquire other techniques and methods. Secondly, a reflexion is going to be held to think about a new clinical trial on younger patients again using a green tea extract, taking into account the results of the trial Tesdad.
Recently the Foundation has launched a call for grant in order to finance research projects. However, this year the candidates were invited to propose scientific researches with particular themes. Can you explain why?
The calls for grant is still about genetic intelligence diseases, but we wanted to draw researcher’s attention on the link there is between Down Syndrome and the process of accelerated cerebral ageing and, amongst other diseases, Alzheimer.
We have noticed that people with Down Syndrome have a longer life expectancy thanks to the development of medical techniques. However, the increase of this life expectancy has led to the detection of symptoms of Alzheimer after 40 years old.
From a scientific point of view, this statement is important enough to justify and motivate the theme given to this call for projects.
How could it be explained that people with Down Syndrome are affected by Alzheimer at an earlier age?
We have noticed that people with Down Syndrome get Alzheimer. The gene which develops amyloid plaques is the APP gene which happen to be located on… the chromosome 21! When the gene overexpresses, it leads to an increase of the Amyloid plaques and, therefore, to Alzheimer disease. This is being worked on by the international scientific community. Soon, a congress will be held at the University of Cambridge which theme will be Alzheimer and Down Syndrome.
If we manage to understand the mechanisms and therefore develop therapeutic solutions for Down Syndrome, the treatment will benefit all people affected by Alzheimer! This, indeed, shows that research on Down Syndrome benefits the whole of the community.
What are the possible research leads?
The research leads are, firstly, clinical research on patients with new active principles, using the latest methods (biomarkers, neural imaging…) which enables one to check the efficiency of the methods used.
We also want to develop animal models: the objective is to understand more precisely the mechanisms involved in the excess production of proteins by the chromosomes 21 (3 instead of 2). For the moment, the animals used are flies, worms and mice.
It also includes research using biology of the living: through the study of a homogeneous group of cells, then through an isolated cell and the analysis of the chromosome, the gene or the protein.
The work themes are as numerous as the competences worked on.