Description provided by Jennifer Cobb, PhD
Jennifer Cobb is a Professor with the Department of Biochemistry and Molecular Biology at the Cumming School of Medicine and Group Leader for the Robson DNA Science Centre.
Genome instability includes the loss or rearrangement of genetic material and it drives tumor formation before cancer could be diagnosed in the clinic. A major source of genomic instability is the mis-repair of DNA double strand breaks (DSBs). When a DSB forms, DNA ends are generated at internal genomic regions. Normally, cells can detect this as damage, protect the broken ends, and activate repair machinery that puts the DNA double helix back together without the loss of important genetic material. However, if there are defects in these repair processes then the DNA ends can interact with other regions of the genome, leading to insertions, deletions or rearrangements in the genetic material. When genome instability develops a cell does not function properly and can convert to a cancer cell.
One of the grants, titled “The role of Nej1 in DSB repair pathway choice and MMEJ” aims to understand how DNA repair factors function at sites of DNA damage to direct repair pathway choice and whether this has therapeutic implications. For example, novel and more sophisticated cancer treatments can be designed to target cells with defective repair machinery.
The other grant, titled “Characterization of Dyskerin in DNA double-strand break repair” takes a very different approach from the first and focuses on the role of a specific factor called dyskerin in DNA DSB repair. The dyskerin protein is mutated in many types of sporadic cancers and has been studied extensively at telomeres. More recent work suggests that it also additional functions in DNA repair and our work will bring insight to how the vital process of DSB repair is altered in certain types of cancers.
Dr. Cobb’s work represents a major focus of the Robson DNA Science Centre, a group of scientists and clinicians researching how genome instability arises following DNA damage and during cellular aging.