Joseph D. Farris

The paper investigates how GLDC variants affect mitochondrial energy metabolism in the brain, showing reduced GLDC levels and altered metabolic pathways in mutant mice.

The paper develops a prediction model for prenatal disease outcomes in GLDC mutations using combined human and murine genomic analyses and in vivo evidence.

The paper develops a mutation score and clinical severity scale to predict neurological disease severity in glycine decarboxylase mutations.

This study shows that chronic administration of a triple HDACi formulation is well-tolerated in mice, preserving brain and lung function while improving drug delivery to the brain and lungs.