Christina A Pacak

Christina A. Pacak is an Associate Professor in the Department of Neurology at the University of Minnesota. Her research is centered on the genetics and mechanisms of cancer and rare neuromuscular disorders, particularly Barth syndrome and Cockayne syndrome. She leads multiple externally funded research projects with the NIH, FDA, and Sarepta Therapeutics, focusing on gene therapy, mitochondrial dysfunction, and cardiac and skeletal muscle pathologies.

Her research interests include:

• Gene therapy using adeno-associated virus (AAV) vectors
• CRISPR/Cas9 genome editing for dilated cardiomyopathy
• Induced pluripotent stem cell (iPSC)-derived cardiomyocyte models
• Mechanisms of mitochondrial dysfunction in Barth syndrome
• Extracellular matrix remodeling in cardiac fibroblasts
• Behavioral assessment in aging and neurodegenerative models

Her recent publications (2024–2025) demonstrate a strong focus on translational applications, including AAV vector optimization for CNS targeting, rescue of mitochondrial defects, and development of clinical models for rare diseases. These works span disciplines such as genetics, neurology, molecular biology, and biomedical engineering, reflecting a highly interdisciplinary approach.

Her scientific contributions are supported by major grants, including:

• National Institutes of Health (NIH) – Mechanisms and Treatment of Cardiac and Skeletal Muscular Dysfunction in Barth Syndrome
• DHHS FDA – Optimized Production of AAV Vectors for Cockayne Syndrome
• University of Florida / Sarepta Therapeutics – Canine iPSC-Cardiomyocyte Studies and CRISPR gene therapy development

She collaborates extensively with leading researchers in neuromuscular disease and gene therapy. While specific advisees are not listed, her role as Principal Investigator indicates active mentorship of graduate students and postdoctoral researchers. She also contributes to open science through public datasets on figshare.