Ellen Koufer

PhD Candidate
Department
Pediatrics
Advisor
Biography

Niemann-Pick disease type C1 (NPC1) is a fatal lysosomal storage disorder caused by mutations in the NPC1 gene, leading to cholesterol accumulation and severe hepatic and neurological dysfunction. The most common Niemann-Pick type C1-causing mutation, I1061T-NPC1, is rapidly degraded in the ER despite retaining function when correctly localized to the lysosome. My research focuses on identifying genetic and molecular regulators of NPC1 protein trafficking and developing therapeutic strategies to restore NPC1 function. I utilize the forward genetic screening technique, Sleeping Beauty transposon-based insertional mutagenesis, lipid particle-mediated delivery of mRNA, and many molecular biology techniques to understand Niemann-Pick type C1 pathogenesis and correction.

 

Honors/Awards:

Genetics T-32 Pre-doctoral Training Grant (2025 - 2026)

Genetics T-32 Pre-doctoral Training Grant (2024 - 2025)

The Ara Parseghian Medical Research Fund Travel Award (2025)

The Ara Parseghian Medical Research Fund Travel Award (2024)

Ellen Koufer Studio Portrait
Hometown
Clive, Iowa
B.S. Biology, B.A. English