Skylar Rizzo

Mentor: Dr. Christina Pacak
College of Medicine
 
"I initially became involved in research because it is highly suggested for premed students. However, after being in the lab, I realized that I am just as passionate about research as I am about medicine. My research interest lies in translational medicine because for me it is a way to combine two passions of mine. It would be incredible to be able to work on developing a treatment and watch it eventually be implemented in patient care. Lab work has inspired me to pursue the dual degree of MD/PhD."

Major

Microbiology and Cell Science

Minor

Health Disparities in Society

Research Interests

  • Gene Therapy
  • Rare Diseases
  • Mitochondrial Disorders

Academic Awards

  • National Spanish Honor Society Scholarship (2013)
  • Bright Futures Scholarship (2013-present)
  • University Scholars Program (2015-2016)

Organizations

  • Gator Savers
  • UF EMR
  • Honors Program

Volunteer

  • Shands Volunteer
  • UF EMR TA

Hobbies and Interests

  • Dancing
  • Reading
  • Soccer

Research Description

Genotype-Phenotype Correlation and AAV Mediated Treatment of Xeroderma-Pigmentosum Cockayne Syndrome (XP-CS)
Xeroderma Pigmentosum-Cockayne Syndrome (XP-CS) is a disease that stems from a mutated gene (ERCC5) resulting in an ineffective protein. This protein functions in the Nucleotide Excision Repair (NER) pathway to repair damaged DNA. Additionally, a mutation in ERCC5 can result in one of two phenotypes: with or without neurodegeneration. In this project, fibroblasts and induced pluripotent stem cells (iPSCs) will be tested to discover the differences between the phenotypes. These tests will later be used as outcome measures to determine treatment efficiency of AAV-mediated gene therapy. Due to the protein's role in the NER pathway, the mechanism of this disease could be used to gain a better understanding of other aging-related disorders.