Deciphering SPTAN1-associated disease mechanism and potential therapy in patient-derived cell lines

December 1, 2025

The SPTAN1 c.6908_6916dup (p.D2303_L2305dup) variant causes severe developmental epileptic encephalopathy type 5 (DEE5) with high risks of early mortality. We investigated the molecular interactors of SPTAN1 and provided confirmatory cellular evidence of dominant-negative disease mechanism. We identified specific therapeutic targets within individuals for precision antisense oligonucleotide therapy development and are currently optimizing our candidate oligos with the goal of reducing disease burden in individuals.

Christiana Wang, BS, is a fourth-year PhD candidate in the Department of Molecular and Human Genetics at Baylor College of Medicine. She graduated summa cum laude with a Bachelor of Science in honors Biology and a minor in Data Science from Case Western Reserve University in 2021. After graduating, she joined the National Institute of Allergy and Infectious Diseases to study immunogenetic mechanisms for establishing the maternal-fetal barrier in early pregnancy. She joined Dr. Pengfei Liu’s laboratory in 2023 and spearheaded efforts to study disease mechanisms and develop translatable treatments for individuals with genetic disorders. The overarching goal of this research is to set forward a streamlined pipeline for n-of-1 therapy development and preclinical validation, helping families affected by rare genetic disorders.

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