3rd year of pediatrics
2021-2022, 2022-2023, 2023-2024
FUNctional Genomics in PEDIAtrics (FunPedia)
The work will be performed at HUDERF, and Hôpital Erasme, at the ULB Human Genetic Center, and at the IB2
New sequencing technologies (massive parallel sequencing of a large amount of genetic information also known as Next Generation Sequencing (NGS)) have revolutionized our knowledge and our ability to make the etiological diagnosis of rare genetic disorders. This has already had a huge impact on the care of people with such conditions. However, despite these major innovations, for more than half of patients, no diagnosis can be made. This could be partly explained by the fact that only the regions coding for proteins (1% of the genome) are currently studied in clinical routine.
In this project, we want to explore how the integration of other levels of information can improve the diagnostic rate of genetic workup performed for children with rare diseases affecting their development.
We will assess the variations observed in:
- parts of the genome which do not code for proteins, but which contain regions whose variations are liable to modify their production.
- The distribution of the different messenger RNAs, which reflects which proteins are actually made.
- the modifications outside the genes, which modify their access, and therefore their reading, necessary for transcription into messenger RNA, and the production of proteins.
Although preliminary data indicate that the analysis of these data is promising, the interpretation of the link between the observed variations and the occurrence of genetic diseases is in its infancy and is currently a challenge.
We will collect and evaluate the tools to interpret these results. We hope to obtain a diagnosis for a certain number of the patients enrolled in this study. We will also lay the first stones for a more widespread use of these new pieces of information.