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Genetics & Biochemistry Branch

Studying how cells repair damaged DNA, how chromosomes pair during meiosis, and how bacteria secrete proteins.
About the Branch

Branch Sections and Chiefs

Genetics and Biochemistry Section

Rafael Daniel Camerini-Otero, M.D., Ph.D., Section Chief

The Genetics and Biochemistry Section studies the biochemistry, molecular, and cell biology of meiotic (homologous) recombination in mice and humans. Our focus is on understanding the biology of genetic recombination and to devise new strategies to manipulate complex genomes in vitro and, in the future, in vivo. Specific projects include biophysical and structural studies of proteins, protein domains and DNA-protein complexes involved, gene rearrangements in eukaryotes and, most recently, mouse and human meiosis and evolutionary genomics. Current interests include the study of Spo11, the protein responsible for the hundreds of developmentally programmed breaks in meiosis, what determines where these breaks are made and where crossovers are located, how homologous chromosomes find each other and how meiosis has shaped the sex chromosomes.

Genetics of Development and Disease Section

Richard L. Proia, Ph.D., Section Chief

The Genetics of Development and Disease Section studies sphingolipid metabolism. Dysfunction of the sphingolipid metabolic pathway causes neurodegenerative disease. Disorders of sphingolipid metabolism include the lysosomal storage diseases, Tay-Sachs disease, Sandhoff disease, Gaucher disease and GM1 gangliosidosis. Defects affecting sphingolipid metabolism have also been linked to the more common neurodegenerative disorder, Parkinson's disease. Our work is aimed at understanding how altered sphingolipid levels cause neurodegenerative disease, and developing approaches for the treatment of the diseases of sphingolipid metabolism.

Glial Biology Section

Ashley Frakes, Ph.D., Stadtman Tenure-Track Investigator, Acting Section Chief

As gatekeepers and guardians of the nervous system, glia act as first responders to disruptions in homeostasis long before patients or neurologists are aware of disease. Therefore, investigating the mechanisms by which glia sense and respond to cellular stressors (such as excess/insufficient nutrients or misfolded proteins) offers a unique opportunity to identify therapeutic targets and biomarkers for disease.

Human Disease Section

Priyanka Narayan, Ph.D., Stadtman Tenure-Track Investigator, Acting Section Chief

The Human Disease Section examines the cellular impacts of genetic and environmental risk factors for neurodegenerative diseases. Our lab works on multiple questions including: (1) How do disease risk factors alter cellular pathways to increase susceptibility or resilience to disease processes? (2) Can we identify genetic and chemical modulators of these cellular perturbations to prevent or reverse the detrimental effects of risk factors? We use a combination of genetics, biochemistry, molecular biology, and human iPSC-derived neuronal and glial cell types to answer these questions. We envision that our findings can accelerate the development of novel therapeutic or preventative strategies for neurodegenerative diseases.

Protein Biogenesis Section

Harris D. Bernstein, Ph.D., Section Chief

The Protein Biogenesis Section studies protein secretion in both pathogenic and non-pathogenic bacteria. We are continuing to pursue a long-term interest in understanding the mechanism of secretion by the autotransporter (“type V”) pathway, which is widely used by pathogenic Gram-negative bacteria to secrete virulence factors. We have also recently begun to study protein secretion in the Bacteroides, a genus of commensal bacteria that constitute a major component of the human gut microbiome.

Last Reviewed August 2023