Onze beursstudenten

Pauline DACREMONT-RODRIGUEZ

---

Onderzoek in het kort !

Project

Analyse multiomique et caractérisation multidimentionnelle de l’autisme

Project supervisor

Pr SMITS Guillaume - Directeur du Centre de Génétique Humaine de l’ULB
Co-Promotrice : Pr Véronique Delvenne – Chef du Service de Pédopsychiatrie de l’HUDERF

Labo of hospitaal waar het project plaatsvindt

Hôpital Erasme, Laboratoire de Génétique de l’ULB (partie laboratoire du projet) et Hôpital Universitaire Des Enfants Reine Fabiola (partie clinique du projet).

Summary

Scientific knowledge about autism is evolving and accumulating thanks to the constant evolution of genetic analysis techniques. Today, it seems necessary to anchor ourselves in a broader, more anticipatory and more inclusive vision.

The goal of this project is to first characterize autism through a multiomics approach. The primary objectives of the research project are to increase the rate of genetic diagnosis of autism and to improve the molecular and functional stratification of subgroups of ASD patients. For this, a solid technical base is being put in place. Authentic whole hybrid genome characterization (short/long read and mitochondrial genome) would allow a more precise detection of possible structural variants and haplotypes and the analysis of the functional genome would allow explaining the use of the genome by the patient's cellular machinery.

This multiomic characterization will be completed by an extended clinical characterization ("deep phenotyping") of autism under a multidimensional approach, directed by the notion of neurodiversity. We hope to highlight the strengths, abilities and challenges of each autistic child thanks to multicenter collaborations including the ULB Autism Reference Center (ARC) and the Human Genetics Center, but also the ACTE research center and the Autism in Action association. We hope that these collaborations will allow the development of a clinical approach that will allow the transmission of specific information specific to each individual, of which the genetic information is a part. This approach represents an access to an extended knowledge of our autistic patients as a whole, without being limited to their genetic variations.

In the future, we hope that this multiomic and multidimensional characterization can be applied to all HUDERF rare disease patients in the hope of increasing the impact of genomic and predictive medicine in pediatrics.

---