Cellular metabolic processes are catalyzed within specific compartments consisting of cytosol and different subcellular organelles. Many inherited metabolic diseases are caused by defects in genes that encode organellar proteins (commonly enzymes or transporters). These defects lead to the accumulation of metabolites that cannot be further processed or transported. The accumulation of a metabolite eventually results in organelle dysfunction, perturbation of cellular homeostasis, and organ damage. The brain is often impacted by organelle-associated metabolic disorders, including lysosomal and peroxisomal storage diseases and mitochondrial disorders.

Our laboratory is devoted to understanding the molecular and biochemical basis of organelle-associated metabolic disorders with a special focus on lysosomal storage diseases. Our goals include characterizing these metabolic disorders, understanding the impact of metabolic perturbations on organellar function and cellular homeostasis, developing tools to monitor organellar metabolism, searching for biomarkers, and designing therapies to restore normal metabolism.

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We conduct our experiments using cell cultures and transgenic mouse models, employing several subcellular multi-omics, high-throughput functional genomics, and biochemical techniques. Moreover, we collaborate with clinical geneticists and scientists at prestigious hospitals and institutions (such as Johns Hopkins Aramco Healthcare, King Faisal Specialist Hospital & Research Centre, and Stanford University). This provides us with valuable opportunities to access patient samples and cells as well as engage in hands-on training utilizing state-of-the-art technologies. Our research will offer novel insights into organellar metabolism and inform the development of future therapeutics of human diseases in which organelles are implicated.