Last 3rd June, on the day before the international congress on Down Syndrome, dozens of researchers from all over the world met at the Institute. This gave the teams of the Institute and of the Foundation the opportunity to show the scientists round the consultation department and the certified Biological Resource Centre, “BioJel”. The researchers’ enthusiasm was unanimous. Many of them saw the complementarity between the consultation department and Biojel as a determining advantage. Both structures are located in the same building, which enables the researchers to analyse the biological samples of the patients on the same day as they are taken, and then immediately enter the data into the biobank BioJel.
During the day, Professor André Mégarbané, director of the BRC bioJel, was able to display the collection of plasma, DNA and cells (primary and cell line) associated with the data. In other words, thanks to the biobank, the researchers have rare information at their disposal: they associate information concerning the patients’ genome (genotypic data) to specific description elements of the patients‘ phenotypic data, which proves very precious to help research progress.
The Institute’s Biobank counts over 4300 “resources”, of which 60% are related to Down Syndrome. Every day its collection increases while keeping the high standards of quality and expertise requested by the international community of researchers and manufacturers. This quality exigency, along with the great number of available samples of rare pathologies, such as Down Syndrome or Fragile X, particularly impressed the researchers, who discovered what an exceptional tool there is at the Institute. Indeed, in Europe and in the US few structures dispose of such a collection of biological samples, and what is more of available samples.
Thus BioJel makes its samples available for the whole of the national and international scientific community. This availability however remains possible under certain conditions, particularly ethical ones.
This “free” access encourages a growing number of scientific partnerships and research projects for a better understanding of genetic intellectual disabilities and therefore enables the patients to receive better care. It is precisely BioJel’s objective.
All the researchers present on June 3rd last praised this scientific ambition at the service of patients. Doctor Antonia Coppus, who came especially from Rotterdam where she works within the neurosciences department, admits: “I am impressed by this biobank. It is functional and collects new samples every day. This enables us to have a good overall insight of Down Syndrome and other genetic intellectual disabilities in the long term”.
Professor William Mobley, head of the neurosciences department of the university of San Diego (US), congratulates the professionals of the Jérôme Lejeune Institute for their great work in favour of people with Down Syndrome and their contribution to the scientific community: “through the samples they collect, the work they carry out with their patients, the link they establish between the samples, and the history of these very patients”.
BioJel is the source of several important publications, amongst which that of André Mégarbané. European Journal of Human Genetics, 2013.