Approches computationnelles pour la génomique fonctionnelle en cancer et maladies du cerveau

 

Claudia Kleinman

Institut Lady Davis de recherches médicales de l'Hopital général juif

 

Domaine : génétique humaine

Programme chercheurs-boursiers - Junior 1

Concours 2015-2016

My research program at the Lady Davis Institute aims to elucidate the molecular mechanisms of disease in the Central Nervous System (CNS) through the analysis of large-scale genomic data. We focus on two currently untreatable and severe brain diseases. On one hand, we investigate leukodystrophies, a rare heterogeneous neurodegenerative disorder characterized by defects in the myelin sheath that insulates nerve cells. On the other hand, we study a group of deadly, aggressive pediatric brain tumors known as ETMRs. These tumors are diagnosed in children under four and are almost always fatal, despite aggressive treatment.

For these two apparently unrelated diseases, the genetic origin is known but no therapy is available. They have one aspect in common: they are the result of defects in essential genes that control the expression of numerous other genes. In order to shed light into the molecular mechanisms underlying these diseases and to get one step closer to developing a treatment, we devise computational methods to analyze gene expression at the whole genome level in large databases. Recent advances in genomic technologies allowing to produce complete molecular profiles of patients in a very cost-effective way have led to the generation of massive publicly available datasets. Our research capitalizes on this unprecedented amount of data. By comparing expression and epigenetic features across hundreds of samples of different tissues, we aim to identify the specific alterations that produce the pathological effects.