The Castellani Lab is currently focused on four main research areas: 

Molecular and epigenetic mitochondriomics

Communication between the mitochondria and the nucleus is elaborate and bi-directional in nature. The effect of mitochondrial DNA variability (mtDNA-CN, heteroplasmy) on nuclear epigenomics and transcriptomics remains uncharacterized, yet its understanding is essential to uncovering mechanisms relating to health and disease. The Castellani Lab uses genome editing techniques and longitudinal cohort models to uncover these dynamic relationships.

Mitochondrial AND EPIGENOMIC Variability in Complex Disease

Identifying mitochondrial and epigenomic variation that modifies risk for diseases such as cardiovascular disease, cardiometabolic disease, congenital heart disease and all-cause mortality. Twins discordant for disease will be used as a model, where possible.

Environmental effects on Mitochondrial DNA

Mitochondrial DNA is influenced by a variety of environmental factors however the nature and identity of these and their downstream consequences have not been well characterized. The Castellani Lab is investigating a variety of chemical, drug, and stress influences on mitochondrial DNA and how those effects translate into nuclear DNA variability.

Mitochondrial DNA measures as clinical biomarkers for disease

The dynamic nature of mitochondrial DNA across the lifespan and in disease makes it a compelling candidate for an early and non-invasive clinical biomarker for disease manifestation and progression.



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