Grant: Operating Grant

All of our genes are arranged on large pieces of DNA called chromosomes. These chromosomes are huge molecules and therefore they need to be folded and packed in such a way that they fit inside a cell and still express the right genes. Cells have developed a complex series of proteins to control the structure of chromosomes and it is very clear that when this process is defective, cells become damaged, do not function properly or even die. An inability to maintain the structure of chromosomes can lead to altered cell function, or in its most severe form cell death. Thus it comes as no surprise that mutations in chromosome-structure proteins cause a variety of human diseases, including developmental disorders that are associated with severe intellectual disability. The main aim of this research is to understand how one of these genes,namely ATRX, functions to keep chromosomes organized and keep the genes necessary for the function of that cell type turned on. Defining this fundamental process is critical for us to understand how chromosome structure is maintained and how these disorders develop. A thorough understanding of these processes will allow us to engineer treatments for the main features of these complex diseases.