Student NameAudrey Daugherty
Faculty Mentor NameDr. Christina Pacak
CollegeCollege of Medicine
MajorMicrobiology and Cell Science
MinorHealth Disparities in Society and Spanish
Research InterestsGene Therapy, Genetic Disorders, Mitochondrial Function, Neurodegenerative Pediatric Diseases
OrganizationsAmerican Physician Scientists Association (APSA)
Hobbies and InterestsPottery, Photography, Baking

Research Project

AAV9 Gene Therapy and its eventual study in a Cockayne Syndrome Model

XPG is a protein which is found on the Xeroderma Pigmentosum Complementation Group G (XPG). This protein is an endonuclease, which repairs DNA damage that is caused by ultraviolet light, through the nucleotide excision repair pathway (NER). Mutations in the ERCC5 gene often lead to XPG and can cause many patients to develop Cockayne syndrome, a disease characterized by severe growth defects, cognitive disability, and cachexia. This project aims to clone XPG (ERCC5 gene) for eventual use in a wide variety of applications in the further study of Cockayne Syndrome. This cloning can be used to generate adeno-associated virus (AAV9) with the cloned plasmid inserted, which will allow for further study of the disease pathway. This will be done in both an in-vivo mouse model and in an in-vitro tissue culture. These studies will provide further implications for not just Cockayne syndrome but other neurodegenerative disorders.