The Fondation does all it can to establish numerous partnerships with teams of laboratories from academia and the biotechnology and pharmaceutical industries.
In conjunction with the international CiBleS21 project, almost twenty research teams – academics and industrialists – are taking part.
The Jérôme Lejeune Foundation creates service platforms to help all scientists interested in its research themes, but without competition with academic research:
- creating animal models imitating symptoms of genetic diseases with intellectual disabilities
- making samples available (BioJeL)
- sharing scientific data from research programmes (PPI), etc.
- making plasmids available to permit the expression of chromosome 21 genes in mammal cells (PPI)
INTREPID – AnEUploidy
The objective of the European AnEUploidy programme is to establish relations between gene functioning and clinically observed signs. It is fundamental research.
Work coming out of this programme has been published in several scientific reviews (References)
Classification of Human Chromosome 21 Gene-Expression Variations in Down Syndrome: Impact on Disease Phenotypes PubMed
- BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients PubMed
- Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes PubMed
- Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways PLoSOne
- The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ. http://www.ncbi.nlm.nih.gov/pubmed/23422941