Cathrine Sant is a NOMIS–Gladstone Fellow at the Gladstone Institute of Neurological Disease in San Francisco, US, where she is conducting her research with co-mentorship from Ryan Corces and Lennart Mucke.

Born in Denmark, Sant moved to the US as a child and grew up in the San Francisco Bay Area. She received her bachelor’s degree in statistics and molecular & cell biology at the University of California, Berkeley. Her undergraduate research in the Memory and Aging Center at the University of California, San Francisco focused on the neuropathological correlates of clinical heterogeneity in Alzheimer’s disease. During her PhD in neuroscience at the University of California, San Francisco, Sant developed a new clustering method for single-cell data, CHOIR, which uses permutation testing to identify biologically distinct cell types and states. She has been applying this method to examine the consequences of ablating the microtubule-associated protein tau (MAPT) in specific brain cell types in the context of Alzheimer’s disease and epilepsy. Sant was awarded the National Science Foundation Graduate Research Fellowship in support of her doctoral work.

As a NOMIS–Gladstone Fellow, Sant is investigating how the complex inversion at the 17q21.31 locus of the human genome, which contains the tau-encoding MAPT gene, affects risk for a varied set of neurodegenerative diseases. She is exploring whether distinct cell-type-specific mechanisms of gene regulation and splicing are responsible for the differential impact of this locus across the implicated diseases. Dissecting the functional impact of the 17q21.31 locus will help define how this single locus modulates disease risk across multiple neurodegenerative diseases and, more broadly, could reveal the evolutionary dynamics of complex genomic loci that have diverged over time due to inversion.

Feature image: Portrait courtesy of Cathrine Sant. Right: Astrocytes (magenta) and nuclei (green) in the mouse hippocampus. (Photo: Cathrine Sant)