معرفی
Natalie Saini, PhD, is an Assistant Professor in the Department of Biochemistry and Molecular Biology at the Medical University of South Carolina (MUSC), within the College of Medicine. Her research focuses on understanding the sources and consequences of genome instability in healthy individuals, cancers, and populations prone to carcinogenesis. A central theme of her work involves investigating how environmental and endogenous DNA damage, coupled with replication errors, contribute to mutational spectra observed in human tissues such as skin. Dr. Saini's lab employs yeast model systems to study DNA repair mechanisms, mutagenesis pathways, and the role of enzymes like APOBEC in generating mutation signatures.
Her studies span topics including aldehyde-induced DNA damage, single-stranded DNA hypermutation, and the mutagenic effects of alkylating agents. Key findings include the discovery of mutation signatures linked to SARS-CoV-2 evolution and rubella virus pathogenesis, as well as insights into chromosomal instability in systemic sclerosis. Dr. Saini collaborates widely, contributing to large-scale initiatives like the Pan-cancer Analysis of Whole Genomes consortium. Her work bridges basic molecular mechanisms with clinical implications, particularly in cancer genomics and precision medicine.
Publications highlight her expertise in genomic instability drivers, mutation signature analysis, and DNA repair deficiencies. While no formal awards or grants are explicitly listed, her extensive publication record and participation in high-impact collaborations underscore her contributions to the field. Research is conducted within MUSC's Biochemistry and Molecular Biology department, emphasizing interdisciplinary approaches to unraveling mutagenesis processes in health and disease.
