Dr Albertina De Sario

Group Leader, INSERM

Email: albertina.de-sario@inserm.fr
Webpage link:

Albertina De Sario, PhD, CNRS Scientist, is group leader since 2003. Her group studied epigenetic modifications in human heterochromatic regions: the group defined a molecular border between heterochromatin and euchromatin in human chromosome 21 and identified an epigenetic tumor marker based upon DNA hypomethylation in heterochromatic genes. This new marker was validated for colon cancer diagnosis.

Currently, the general aim of the group is to study the role played by epigenetics in the etiology of rare inherited diseases. A first project focuses on the epigenetic regulation of CFTR responsible for cystic fibrosis. A second ongoing project investigates epigenetic changes (DNA methylation and histone modifications) and aberrant transcription of heterochromatic genes in ICF (Immunodeficiency, Centromeric instability, Facial Dysmorphy) syndrome.