Abstract

Xeroderma Pigmentosum is a rare genetic disorder caused by defective DNA damage repair enzymes. This condition results in an increased risk of developing skin cancer and other symptoms in those affected. In this thesis, we examined the effects of Xeroderma Pigmentosum on gene expression in patient skin biopsy samples. To accomplish this, we utilized statistical analysis of spatial transcriptomic and single-cell RNA sequencing techniques to discover differences between patient and heterozygous carrier skin samples. We found that the skin samples from Xeroderma Pigmentosum patients showed elevated levels of inflammation, immune activation, and cellular stress, while the carrier skin samples leaned toward normal cellular function. To our knowledge, this is the first study of its kind in skin samples. Our research contributes to a better understanding of this rare disease, advances biomarker discovery, elucidates underlying genetic mechanisms, and informs more targeted therapeutic development, supporting improved treatment outcomes and quality of life.

Degree

College and Department

Life Sciences; Microbiology and Molecular Biology

Rights

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