Research is in our DNA
Understanding the causes of intellectual deficiency and associated diseases, looking for treatments to correct the intellectual disability, or to improve the autonomy or quality of life of patients…
Research in all its forms (clinical research, translational research) is a constituent element of the Jérôme Lejeune Institute, which was involved, in 2019, in 10 research programs, including several clinical trials, either as the sponsor or as an investigating center.
The Jérôme Lejeune Institute also manages its own biological resource center, which contains 7,594 samples and associated clinical data in the domain of genetic diseases with intellectual disability.
Considerable progress over the last 10 years
Research has progressed considerably in recent years, due, particularly, to the involvement of the Jérôme Lejeune Foundation, which, over the last 20 years, has funded more than 700 projects, dedicating more than 4 million Euros of its annual budget to research.
Three examples relating to Down syndrome:
- About 255 genes on chromosome 21 have been identified, including some that are strong candidates for involvement in the cognitive deficiency of patients with Down syndrome. This makes it possible to search for targeted treatments countering the effects of the overexpression of these genes.
- We can create animal models carrying three copies of chromosome 21. In 2019, we know how to improve the learning or memory capacities of some of these mice (by EGCG, for example). The therapeutic successes achieved in mice have yet to be reproduced in humans, but they constitute a fundamental preliminary step that raises hopes for therapeutic research.
- We can now screen for and treat most of the problems associated with Down syndrome, such as West syndrome or sleep apnea syndrome, that might lead to multiple disabilities and alter cognitive development. This is a major advance stemming from good medical follow-up of patients for the last 30 years.
We believe it: one day, we will find ways to improve the cognitive functions of patients significantly. Considerable progress has already been made in recent years. We must remain prudent and bear in mind that many clinical trials have failed. However, despite these failures, we are relentlessly continuing our research efforts for these patients.
At the Institute, care and research are intricately linked: research is directed by the patients, performed with the patients and is ultimately for the benefit of the patients! The research performed at the Institute is, therefore, essentially clinical in nature.
Research for everyone’s benefit!
Fundamental and clinical research provides scientific and medical information that helps us understand and treat many genetic diseases causing intellectual disabilities, and the pathological conditions associated with them.
Indeed, some diseases have a higher prevalence in individuals with these genetic illnesses, such as Down syndrome: cardiopathies, thyroid dysfunctions, neurosensory problems, testicular cancer, sleep apnea, Alzheimer’s disease. Conversely, arterial hypertension, cerebrovascular diseases and solid tumors are less frequent in these patients than in the general population.
Research on Down syndrome and other genetic diseases therefore helps to advance research into these other diseases, which are also frequent in the general population… and is therefore beneficial for all!