The Respectful and 100% ethical research of life is at the heart of the Foundation.
The 20th anniversary of Jérome Lejeune’s death gives us the opportunity to take stock of the goals and funding of research, but also on the means that are necessary to succeed such as putting young researchers in the spotlight.
More than anything else, the year 2014 was marked by the fourth edition of the International Clinical Jérôme Lejeune Days. This international meeting, organised by the Jérôme Lejeune Institution and Foundation, allowed specialised researchers of Down Syndrome and genetic intelligence diseases, to get together and share, concerning particular themes. This year’s theme was “the importance of assessment in intellectual disabilities”. A whole press folder was dedicated to the event!
Scientific research is, first of all, fundamental research. By becoming ManRos’ partner, the Foundation once again showed that it is invested in funding research and in helping it progress. The work of ManRos represents a new hope in the understanding of cognitive disorders in Down Syndrome.
At the Jérôme Lejeune Institute, over 367 medical consultations were devoted to clinical research in 2014, via two research programmes: ACTHYF and ROCHE.
For the Jérôme Lejeune Institute, research also means including patients in the ACTHYF protocol.
The year 2014 celebrated the inclusion of the 100th patient in ACTHYF. This is a good opportunity to take stock of the goal of this research and remind all future candidates about practical information.
The Jérôme Lejeune Institute is also taking part in a clinical study launched by the Roche laboratory. The goal of this international trial is to try to improve the cognitive capacities of people living with Down Syndrome.
There is progress concerning therapeutic trials: the therapeutic trial TESDAD, of which 50% is funded by the Foundation, is showing very promising results. These trials show progress concerning the memory and executive functions of the people included in the study.
Therapeutic research is also about putting information at the disposal of researchers all over the world, and that is why, for the third year in a row, Biojel, the Institute’s biological resource centre (BRC) has obtained the certification NFS 96 900. This laboratory is a tool that is put at the disposal of the whole world.
Rare diseases at the heart of research: Fragile-X, Smith Magenis, Rett Syndrome
February 28th, International Rare Disease Day, is also the opportunity to talk about the Institute. Indeed, its consultation ward receives many patients living with rare diseases: Fragile-X, Prader-Willi, Smith-Magenis… Professor Marie-Odile Rethoré is saluting the welcome given to these patients living genetic diseases.
But, more than anything else, rare diseases are a challenge for the Jérôme Lejeune Foundation. Valérie Legout, the International Research Director, is taking stock of the more than 45 research programmes dedicated to rare diseases (over 1.3 million euros in 2013). Scientific research is in full mutation: a revolution due to the improvement of the techniques and the decrease of the cost of research. As many elements which carry hope for treatments to come.
This revolution allowed the discovery of a treatment enabling the scientists to regulate the autistic syndromes in the mouse model for Fragile-X Syndrome. This is a new research lead to be explored for the development of a future treatment for patients with Fragile-X Syndrome.
The year 2014 was also marked by the success of research on Rett Syndrome: a therapeutic trial has shown beneficial effects on patients, particularly concerning their behaviour and cardiorespiratory functions. This success will enable researchers to develop a treatment for this rare disease, in the years to come.
Research on Down Syndrome.
March 21st, World Day for Down Syndrome, is also a good opportunity to talk about Alzheimer. People living with Down Syndrome are more concerned by this pathology than other people, due to the presence of the gene APP in triplicate on the chromosome 21. People living with Alzheimer will be able to benefit from the progress concerning this research the same as people living with Down Syndrome do; because research on Down Syndrome is at the service of our entire society.
Finally, the scientists of the Institute have been looking into the many leukaemias which affect people suffering from Down Syndrome. The latter were developing more Leukaemias than other people, without any explanation. The study thus enabled the researchers to find a gene, located on the chromosome 21, responsible for leukaemia. This discovery has opened the way for new possible therapeutic research which will benefit people with Down Syndrome as well as all those suffering from these types of Leukaemia.
Nowadays, “things must be said clearly: the quality of a civilisation is measured by the respect it shows to the weakest of its members”, as Professor Lejeune, who made research his central priorities, used to say…