Labs by division

Leading the way in Batten disease research, the Pediatric Storage Disorders Lab (PSDL) spearheads global efforts to unravel the complexities of neuronal ceroid lipofuscinoses (NCL) and related lysosomal storage disorders. At the forefront of NCL studies and therapeutic innovations, our team combines advanced morphological analysis with cutting-edge approaches such as gene therapy, enzyme replacement and small molecule strategies. By mapping disease progression across diverse models, we aim to refine targeted interventions that offer hope for patients worldwide.

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Transforming the understanding of misfolded protein diseases, David Perlmutter’s laboratory investigates the pathobiology of α1-antitrypsin deficiency, a rare disorder that drives chronic liver failure and hepatocellular carcinoma. Through groundbreaking studies on protein clearance and liver pathology, the team has developed a pipeline of drugs capable of eliminating misfolded proteins and reversing disease in model systems, with one therapy advancing to phase II/III clinical trials. This innovative drug class holds promise not only for liver disorders but also for age-related neurodegenerative diseases such as Alzheimer’s.

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Exploring mechanisms of lung disease and identifying non-CFTR modifiers that influence severity, our lab focuses on airway disorders such as cystic fibrosis to uncover biological pathways driving disease progression. Using molecular biology, genetics, biochemistry and bioinformatics, we investigate factors beyond CFTR that shape inflammatory and immune responses in airway epithelia. Through genomics, multi-omics analyses and translational research, we aim to develop innovative therapeutic targets and personalized strategies to improve outcomes for people with CF and related conditions.

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Fighting multidrug-resistant Klebsiella pneumoniae our lab investigates the pathogenesis of this urgent CDC and WHO priority pathogen and works toward vaccine development. We study classical and hypervirulent strains using mouse models of pneumonia and urinary tract infection to understand virulence factors including capsular types, O-antigens and the fimK regulatory gene. With over 300 clinical isolates in our repository we aim to identify strategies that inhibit virulence or prevent infection through effective vaccines.

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Unveiling ERp29's crucial role in correcting biogenesis defects, our laboratory investigates how small molecules enhance the function of mutant proteins that disrupt normal protein folding and trafficking. Building on discoveries in cystic fibrosis ion channel biology, we now explore broader mechanisms of protein biogenesis regulation across diverse inherited diseases, aiming to identify therapeutic strategies that restore cellular balance.

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Exploring the molecular signals behind liver regeneration, our laboratory investigates how this remarkable organ restores both structure and function after injury or disease. Using rodent partial hepatectomy and complementary models, we focus on extrahepatic factors that regulate liver mass and regenerative capacity. Translating these insights to human liver disorders, we have identified a novel metabolomic marker with potential to predict clinical outcomes in pediatric acute liver failure, bridging fundamental research with real-world impact.

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Enhancing pediatric critical care through predictive models and decision support tools, our team specializes in translational biomedical informatics to transform high-resolution EHR data into actionable insights. By developing machine learning-driven solutions that integrate seamlessly into clinical workflows, we aim to improve decision-making at the bedside and advance personalized care for critically ill children.

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Studying how cells regulate metabolic programs and their link to neurological disease our lab uses genetics, cell biology and systems biology to uncover how dysfunction in these networks drives neurodegeneration. Our ultimate goal is to translate this knowledge into therapeutic strategies for disorders of the nervous system.

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Exploring inflammation's role in blood cancer and optimizing treatment our lab studies how inflammatory signals affect hematopoietic stem cells and contribute to malignancies. While inflammation is essential for immune defense prolonged exposure can impair stem cell function and drive clonal expansion of mutant cells leading to blood cancers. By understanding these responses we aim to improve stem cell health and develop strategies to prevent hematopoietic malignancies.

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Exploring cellular mechanisms that govern protein targeting, degradation and placental development, our laboratory investigates how intracellular pathways maintain homeostasis and regulate receptor-mediated endocytosis. By studying protein processing within endosomal and lysosomal systems and the molecular biology of syncytia formation in placental trophoblasts, we aim to uncover fundamental processes that influence health and disease. Our integrated approach provides insights into cellular regulation with implications for developmental biology and therapeutic innovation.

Research profile