Studying the consequences of chromatin disruption in Cornelia de Lange Syndrome

Year of award: 2021


  • Dr Robert Beagrie

    University of Oxford, United Kingdom

Project summary

In order for cells to function properly, they must package DNA into chromatin, a complex structure that lets them read the right DNA regions at the right time. Genes that are involved in this process are some of the most frequently disrupted in human developmental disease, yet we know very little about how this works. Mutations in a chromatin organising complex called cohesin cause Cornelia de Lange Syndrome (CdLS). I will study mice with mutations that mimic CdLS, causing heart and brain issues (the organs most commonly affected by mutations in other chromatin genes). I will investigate which genes are improperly switched on or off in individual cells, and how DNA packaging into chromatin is disrupted in these cells. I will also investigate whether similar disruption happens in CdLS patients. The results will help guide the development of CdLS treatments and future research exploring chromatin disruption in other genetic diseases.