Penn medical student with rare genetic ALS is pursuing gene therapy research.

A 32-year-old MD/PhD student at Penn has a rare inherited form of ALS and is working with a Penn researcher to develop a gene therapy; her father died of the same form in 2024.

Yentli Soto Albrecht is an MD/PhD student at the Perelman School of Medicine who has a rare inherited form of ALS. Genetic testing showed she carries the same form of the disease that killed her father in 2024. She is working in a Penn laboratory alongside Dr. Defne Amado on research focused on developing a gene therapy. There are currently no cures and available treatments are limited. Current details: - Yentli Soto Albrecht is 32 and an MD/PhD student at the University of Pennsylvania. - Genetic testing indicates she has the same familial form of ALS that affected her father, who died in 2024. - She and Dr. Defne Amado are collaborating in a Penn lab on research aimed at developing a gene therapy for this form of ALS. - ALS is a neurodegenerative disease with no cure, and treatments are described as limited. Summary: The report links a personal diagnosis to an active research effort that aims to change outcomes for familial ALS and related dementia. The work is described as time-sensitive, and the specific timeline and next procedural steps for the gene therapy are undetermined at this time.