Home Department: Human Biology
Mentor: Natalia Gomez-Ospina (Pediatrics - Medical Genetics and Stem Cell Transplantation)

“Role of Galactocerebrosidase Gene Knock-Out in Human Cord-Blood Derived Hematopoietic Stem Cell Proliferation and Differentiation”

Galactocerebrosidase (GALCase) enzyme deficiency results in a lethal neurodegenerative disorder known as Krabbe disease. While its role in cerebral homeostasis (sphingolipid breakdown and maintenance of normal brain myelination) is clearly established, the Gomez-Ospina lab posits that GALCase is also important in hematopoietic stem cell (HSC) production and development. To examine this, Lexi will use CRISPR/Cas9 to remove GALCase from human cord-blood derived HSCs and comprehensively assess their production and development potential in the lab. The project involves cell engineering, quantification of genome editing outcomes of the GALCase gene, biochemical assays of enzyme activity and metabolite accumulation, as well proliferation and colony formation assays. Experimental results will contribute to our understanding of how CALCase is involved in blood-related stem cell production and development.