Genetics & Genomic Medicine

Illuminating the functional impact of genetic variants, our laboratory explores the genetic basis of rare Mendelian disorders while pioneering high-throughput cell-based assays and functional genomics techniques to characterize clinically observed variants. Combining genome sequencing with advanced informatics, we strive to make genetic data more actionable at the bedside, improving diagnostic precision and patient care.

Research profile

Advancing therapies for MPS disorders, the Dickson Laboratory investigates lysosomal enzyme deficiencies that disrupt glycosaminoglycan metabolism and lead to severe neurological complications. Focused on cerebrospinal fluid delivery of recombinant enzymes, our research demonstrates widespread biodistribution and correction of lysosomal storage in MPS models. By integrating neuroimaging, neuropathology and immune response studies, we bridge bench-to-bedside efforts that include clinical trials aimed at transforming outcomes for patients with these devastating conditions.

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Investigating cross-generational epigenetic regulation and its impact on health and disease, the Greer Lab explores how non-genetic information shapes complex physiological and pathological traits across generations. By studying molecular determinants of epigenetic memory, we aim to uncover how environmental changes influence health, development and longevity, and how disruptions in these mechanisms contribute to disease. Our research seeks to illuminate the processes behind epigenetic inheritance and identify strategies to improve outcomes for future generations.

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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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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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Advancing genomics and metabolic research in maternal-fetal health our work focuses on genomic disorders, cytogenetic abnormalities, skeletal dysplasia and the genetic basis of autism. We use reverse genomics to characterize phenotypes with emphasis on 16p11.2 rearrangements and develop novel methods for detecting metabolic conditions. As co-director of the Women and Infants’ Health Specimen Consortium we also investigate metabolomics and feto-maternal interactions during pregnancy.

Research profile