Faculty
Alex G Bassuk M.D., Ph.D.
Our laboratory is interested in understanding the basic mechanisms underlying both normal and disordered development of the nervous system. Our approach to these issues includes investigating the genetics of human neural tube defects (NTDs) and familial epilepsies, and elucidating the biology regulating neural stem cell development. The techniques used in our laboratory include genome wide linkage analysis (GWA), association studies, comparative genomic hybridization (CGH), copy number variation (CNV) analysis, transgenic mouse production, and cell culture. As part of our studies we have collected DNA samples from over 2000 patients and family members with congenital nervous system malformations, and several large families with autosomal recessive epilepsy syndromes.
Charles Benner Ph.D.
Our research group works on the normal function of two suppressor genes and the function of novel pathways of NAD biosynthesis as they relate to cellular homeostasis and aging. Our principal tools are yeast and somatic cell genetics, protein biochemical analysis, quantitative mass spectrometry, and structural and chemical biology. Our FHIT group is dissecting the immediate gene expression and epigenetic consequences of loss of this tumor suppressor gene from bronchial epithelial cells. Our RING E3 ubiquitin ligase group is defining the targets and the enzymology of two types of ubiquitin modifications that enforce cell cycle transitions. Our NAD group has discovered a set of novel biosynthetic reactions and is uncovering how these pathways are altered by calorie restriction and aging.
Jackie R. Bickenbach Ph.D.
The research in my lab involves both understanding how aging affects epidermal stem cells and developing molecular mechansims to reprogram skin keratinoccytes into pluripotent cells. Previously, we identified a subset of basal skin keratinocytes as stem cells. These cells have multipotent characteristics in that they can differentiate into various other types of cells and tissues, including neurons and B-lymphocytes. We are examining these cells to determine whether they have activated new signaling pathways. We also have shown that the age of the epidermal stem cell has little effect on its multipotent capabilites, and thus could be used in translational or clinical cell-based therapies, especially in age-related diseases. Currently, we are using growth conditions, growth factors, and transient transfection to modulate the function of skin keratinocytes. This translational project produces cells that we then test in models of human disease. A primary objective is to understand how these factors reprogram the keratinocytes into more potent cells, with an emphasis on epigenetic events. Overall, our goals are to understand the mechanisms that regulate reprogramming events, and to develop cell-replacement regimes that can be translated for human therapy.
Terry A Braun Ph.D.
I have been involved in the application of high-performance computing technologies to the challenges of disease gene identification and mutation screening. My efforts, in collaboration with members of the College of Medicine, have involved the design of novel techniques utilizing networked systems to analyze genomic sequence and annotation. This also includes the integration of detailed phenotypic data (clinical data) with molecular data (the results of wet-lab experiments). The techniques need to be adaptable so that they may utilize recent and future high-throughput technologies (microarrays, protoeomics, SNPs, etc.). The tools derived from these techniques are actively being applied to identify disease-causing mutations for glaucoma, macular degeneration, autism, retinitis pigmentosa, Bardet-Biedle syndrome, and others, and may lead to better understanding of the pathophysiology of these disorders.
