Molecular Metabolism
Valerie Arboleda, MD, PhD
Functional Genomic Approaches to Identify Mechanisms in Human Disease
The Arboleda lab is broadly interested in the discovery, functional analysis, and therapeutic targeting of genes that are altered in human disease. We seek to understand how different types of genetic changes affect the function of human genes and influence the molecular phenotype within a single cell. By understanding the underlying function of a genetic mutation at its fundamental level, we can identify potential targeted therapies for a wide variety of clinical diseases. The research lab leverages genomic tools to understand how both rare and common human genetic variation contribute to and cause human disease. As the sequencing technology has matured, one of the major challenges in genomics is interpreting the majority of the DNA base pairs that are sequenced within an individual -- an important next step in integration of research findings into the clinical setting. Continued >>
Tomas Ganz, MD, PhD
Iron homeostasis in health and disease
Iron is an essential trace element whose plasma concentrations must be maintained in a narrow range. Prolonged decrease in plasma iron concentration causes cellular iron deficiency and anemia, and prolonged increase causes iron toxicity leading to organ failure and death. Our group discovered the iron-regulatory hormone hepcidin and, together with others, characterized its effects, regulation and mechanism of action.
Wayne Grody, MD, PhD
Molecular genetics of metabolic and heritable neoplastic diseases
Utilizing modern molecular biologic techniques such as gene cloning, microarray hybridization, and gene transfer, my laboratory is involved in the elucidation, diagnosis and ultimately treatment of single-gene defects at the molecular level. Using human arginase deficiency, a defect in the urea cycle, as a model system, we are exploring, in close collaboration with the laboratory of Dr. Stephen Cederbaum, the molecular structure and tissue-specific regulation of the arginase genes in health and disease. More Info >>
Orphan Disease Testing Center >>
Michael Teitell, MD, PhD
Signaling and epigenetics in immune system development and cancer
My laboratory studies two overlapping areas with emerging roles in cancer of the immune system. We initially compared gene expression profiles from B cell tumors that arose in immune deficient versus immune competent settings. This approach resulted in the isolation of a large number of differentially expressed genes. We have characterized these isolates and focused on members of the TCL1 gene family, which... More Info >>
Peter Tontonoz, MD, PhD
Transcriptional regulation of metabolism and inflammation
The nuclear hormone receptors are a family of ligand-activated transcription factors that play diverse roles in mammalian physiology. While it has long been recognized that these proteins are central to development and homeostasis in vertebrate organisms, recent work has begun to define an unexpected role for members of this superfamily in human disease. Obesity, diabetes and cardiovascular disease... More Info >>