Research programme



Programmes conceptualised by the Foundation

Thanks to the generosity of its donators, the Jérôme Lejeune Foundation supports a number of research teams working towards a treatment for trisomy 21.



Fundamental research programme

This programme spans all the research phases aimed at decoding the mechanisms of these abnormalities. All relevant technical possibilities are used, from isolated cells to the entire animal.


Here are two examples of fundamental research programmes currently underway:


  • The CBS enzyme (cystathionine β-synthase) is strongly expressed in trisomy 21 patients. Researchers have observed that the gene coding for this enzyme is located on chromosome 21. This enzyme is thus a candidate for a future therapeutic target.

  • A significant research programme has been underway at the Jérôme Lejeune Foundation for the past 10 years in collaboration with multiple scientific and industrial partners.

  • The Foundation has very recently obtained proof that over-expression of CBS causes cognitive abnormities in mice. This is true progress in view of the fact that the scientific community lacked proof until now.


    • The InterPP programme involves observing protein interaction, which has a determining role in the intellectual disability linked to trisomy 21 with the aim of designing new therapeutic strategies. Hybrigenics is partnering with the Jérôme Lejeune Foundation in the InterPP programme and its research teams perform the protein screening used to identify protein-protein interactions.


  • Since the project was launched, 40 screenings have been performed. The first results obtained were announced at international congresses and publications are currently being drafted. Initial data shed light on the protein interactions involved in trisomy 21  as well as in other genetic intelligence disorders (X-fragile, autism, schizophrenia…). One of the major objectives is to share the data generated by this programme with all research teams on a global scale, to contribute to further scientific research.


Clinical research programme


In coordination with the Jérôme Lejeune Institute, the Foundation monitors the data from the cohorts of patients afflicted with trisomy 21.
The power and quality of the Research work conducted by the Jérôme Lejeune Foundation reside in this close link with the patients treated by the Jérôme Lejeune Institute. This synergy between fundamental and clinical research is doubtlessly what will empower therapeutic progress in these genetic intelligence disorders.

    • During the previous ENTRAIN clinical trial, financed by the Foundation, it was demonstrated that intake of folinic acid improves learning ability in trisomic children already being treated with thyroid hormone. These results were published in January 2010.

Read the ACTHYF brochure


External programmes financed by the foundation

  • TESDAD is a clinical research programme aimed at assessing the benefits of a compound extracted from green tea, EGCG (epigallocathechine gallate) on the intellectual capacities of patients afflicted with trisomy 21.


    • EGCG is a natural inhibitor of the enzyme DYRK1A coded by a gene that is over-expressed in patients with trisomy 21 and a candidate for intellectual disability.


  • Work conducted by fundamental research teams under the supervision of Profs. Mara Dierssen (Barcelona) and Jean Delabar (Paris), have highlighted the role of Dyrk1A in trisomic mice. In the animal, the inhibition of DYRK1A improves learning and memorising performance in mice.


Programmes aimed at every stage of the drug development chain


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