Assistant Professor, Department of Developmental & Molecular Biology
Characterization of a novel immunodeficiency syndrome
Our laboratory uses molecular biology and genetics to advance the understanding and treatment of human disease. We work on two projects, both of which have direct applications to the clinical setting.
Role of Magmas in mitochondrial function
We identified Magmas (Mitochondria associated granulocyte-macrophage colony stimulating factor signaling molecule) as a GM-CSF inducible gene in myeloid cells. Magmas is a highly conserved essential gene, without characterized functional motifs, and is present in all eukaryotic cells. It is located in mitochondria, and expression is developmentally regulated and tissue specific. Magmas associates with a variety of proteins suggesting that it is involved in several signaling pathways. Preliminary results show that Magmas has a role in human disease.
Novel Innate Immunodeficiency Syndrome
We are studying the macrophages from a family affected with brain abnormalities, recurrent infections and monocytosis. The patient macrophages have abnormal morphology when cultured in vitro compared to control macrophages. Morphological abnormalities in polarity, ruffling, filiapodia and footprint size are observed. Proliferation, differentiation, cell volume and phagocytosis were similar to the controls. In contrast, significant differences were observed in cell motility, migration and invasion assays. A candidate gene has been identified. Our results demonstrate the identification of novel disorder of innate immunity.
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Albert Einstein College of Medicine
Jack and Pearl Resnick Campus
1300 Morris Park Avenue
Chanin Building, Room 510
Bronx, NY 10461