Laura Bull, PhD
Professor of Medicine, The Liver Center
Graduate Program Membership: BMS
Dr. Bull’s research is aimed at understanding the mechanisms underlying the development of cholestasis through study of human patients and animal models. A primary interest lies in distinguishing between the variant forms of familial intrahepatic cholestasis type 1, due to mutations in ATP8B1 and ABCB11, as well as identification of genetic modifiers using mouse models. Her group is also working on identification of genetic factors underlying intrahepatic cholestasis of pregnancy and lymphedema-cholestasis syndrome. She is also an active participant in the Chelstatitic Liver Disease in Children consortium.
Atul Butte, MD, PhD
Director of Institute for Computational Health Sciences
Professor of Pediatrics
Executive Director for Clinical Informatics, University of California Health Sciences and Services
Graduate Program Membership: BMI, iPQB, PSPG
Dr. Butte builds and applies tools that convert more than 400 trillion points of molecular, clinical, and epidemiological data — measured by researchers and clinicians over the past decade and now colloquially known as “big data” — into diagnostics, therapeutics, and new insights into disease. His lab has developed tools to analyze genomic data sets, and has used these tools to develop new uses for existing drugs, and new diagnostics. Dr. Butte was part of the team treating the first patient presenting with a whole genome. A major new focus is the analysis of clinical data from electronic health records.
Farid Chehab, PhD
Professor of Laboratory Medicine, Division of Molecular Diagnostics
Medical Genetics and Molecular Pathology Training programs
Dr. Chehab’s research efforts are centered on elucidating the mechanisms causing ichthyosis and lipoatrophy in a knockout mouse model for a novel gene that is highly conserved in mammals. These investigations will uncover the function of the encoded protein in epidermal lipid metabolism and its interplay with dermal adipocytes, using primarily inducible mouse knockout models in the epidermis and adipocytes. Dr. Chehab is also working on the role of FoxO4 in the late steps of cholesterol biosynthesis. Furthermore, he is using NGS and microarrays to uncover genes and variants associated with obesity in neonatal syndromes without a firm clinical diagnosis.
Robert Farese, Jr., MD
Senior Investigator, Gladstone Institutes
Professor of Medicine and of Biochemistry & Biophysics
Dr. Farese’s research focuses on discovering the mechanisms of lipid synthesis and storage in cells and organisms. Both membrane precursor lipids and energy storage lipids are stored in lipid droplets, poorly characterized organelles. Dr. Farese and his lab investigates the molecular biology of lipid droplet formation, including the biochemistry and regulation of membrane-bound enzymes, the mechanisms of lipid droplet formation, the targeting of proteins to lipid droplets, and the impact of all these processes on physiology and diseases, such as obesity, diabetes, liver steatosis, and atherosclerosis.
Elena Flowers, PhD
School of Nursing
Dr. Flowers’ research focuses on precision medicine and risk for cardiovascular disease and type 2 diabetes. Specifically, she is studying the utility of epigenetic biomarkers for risk detection and prediction of response to risk-reduction interventions. Current studies include investigation of microRNA expression in individuals who are insulin resistant, and prediction of responses to both pharmacologic and behavioral interventions.
Renata Gallagher, MD, PhD
Associate Professor of Clinical Pediatrics
Dr. Gallagher focuses on research related to inborn errors of metabolism. These disorders are due to mutations in genes encoding enzymes or transporters critical for proper function of one or more biochemical pathways. Her primary research interests are in urea cycle defects and in disorders of neurotransmission. Current projects include understanding and elucidating the basis of liver injury in urea cycle defects; and optimizing the identification and treatment of pyridoxine-dependent epilepsy, a treatable cause of early infantile epileptic encephalopathy.
Edward Hsiao, MD, PhD
Dr. Hsaio’s research focuses on understanding how hormone signals affect mesenchymal tissues in normal growth and disease. Recent projects involve the skeletal system and include developing a mouse model for studying G-protein signaling in bone growth, creating new methods for identifying embryonic stem (ES) cell-derived tissues, and developing human induced pluripotent stem cell (iPSC) and ES cell models from patients with genetic bone diseases. His laboratory employs molecular and genetic approaches to develop a broader understanding of human skeletal development, devise novel therapeutic approaches for treating human skeletal disorders and bone injuries, and examine how hormone signals affect mesenchymal tissues.
John Kane, MD, PhD
Professor of Medicine, Co-Director UCSF Adult Lipid Clinic
Dr. Kane’s research has two major foci: The first is elucidation of the molecular speciation and function of human high density lipoproteins. This involves detailed mass spectrometric identification of constituent protein and lipid molecular species and discovery of their functional roles in metabolism and the immune defense. The second is the identification of genetic determinants of disorders of lipid and carbohydrate metabolism and cardiovascular disease, now including the study of epigenetic factors, pharmacogenomics, and the genetics of aging.
Michael T. McManus, PhD
Vincent and Stella Coates Endowed Chair
Associate Professor of Microbiology and Immunology
Director, UCSF Keck Center for Noncoding RNAs
Graduate Program Membership: BMI, BMS, PIBS, PSPG
Dr. McManus studies biological processes relating to mammalian gene expression with high-throughput approaches, analyzing hundreds of thousands to millions of experiments at once, using complex libraries coupled to deep sequencing. The systems span from cell culture to in vivo models or a broad array of disease relevant tissues. From cancer to diabetes, his laboratory develops novel technologies to understand how genes are regulated and how they function in cells, including the systematic analysis of pathways and how genes interact in development and disease. A major focus is to uncover roles for noncoding RNAs, the veritable Dark Matter of the genome.
Walter Miller, MD
Distinguished Professor of Pediatrics
Graduate Program Membership: BMS
Dr. Miller’s research concerns human steroid hormone biosynthesis. His laboratory has cloned the genes for many steroidogenic enzymes and associated factors and delineated the genetic basis of numerous diseases, including congenital lipoid adrenal hyperplasia, isolated 17,20 lyase deficiency, a severe recessive form of Ehlers-Danlos Syndrome, vitamin D-dependent rickets, P450scc deficiency, Antley-Bixler Syndrome, the nephrogenic syndrome of inappropriate antidiuresis, and numerous defects causing congenital adrenal hyperplasia. Present efforts are primarily directed toward the signal transduction pathway that results in the phosphorylation of P450c17 (the product of the CYP17A1 gene), which selectively increases its 17,20 lyase activity and consequently regulates androgen synthesis.
Robert Nussbaum, MD
Holly Smith Professor of Science and Medicine
Chief, Division of Genomic Medicine, Department of Medicine
Graduate Program Membership: BMS
Dr. Nussbaum studies genetic contributions to developmental, neurodegenerative and cardiovascular disorders. Two areas of concentration are Lowe syndrome and Parkinson disease. Dr. Nussbaum’s group identified the defective gene that causes Lowe syndrome and pioneered the delivery of genetic services and counseling, including carrier testing, to families of Lowe syndrome patients. In his Parkinson disease work, he identified a missense mutation and established the alpha-synuclein gene (SNCA) as a cause of hereditary, early onset Parkinson Disease. His group also focuses on mouse models, and has engineered several transgenic mice expressing mutant human alpha-synuclein that show a severe, rapid neurological deterioration.
Seymour Packman, MD
Professor Emeritus of Pediatrics
Dr. Packman’s recent emphasis has been on clinical investigation and academic program development, embodied in the formation of the Neurometabolic Program, and the Lysosomal Disease Center. Current focus in clinical investigations, under the auspices of these programs, is on the natural history and disease mechanisms of lysosomal storage disorders — in particular, the pathogenesis of neurologic manifestations in Fabry disease. He has maintained a laboratory effort in experimental studies directed towards disease mechanisms in genetic disorders of micronutrient metabolism. Current experimental efforts are being developed to identify modifier genes in galactosemia, using the galactosemic mouse oocyte as a model system.
Mark Seielstad, PhD
Professor of Laboratory Medicine, Epidemiology & Biostatistics, and of Global Health Sciences
Graduate Program Membership: BMI, BMS
Dr. Seielstad’s research bridges epidemiology and population genetics. The main goal is to identify human genetic variation altering the risk of complex diseases involving immunity (e.g., autoimmunity and susceptibility to infectious diseases) and metabolism (e.g., type 2 diabetes). This puts an emphasis on technologies such as SNP genotyping, and next-generation sequencing to reveal and characterize polymorphisms in genome-scale data. Much of this work is carried out in geographically diverse human populations, which are also the subject of anthropological investigations that seek to characterize the global distribution of genetic variation.
Christian Vaisse, MD, PhD
Vera M. Long Professor in Diabetes Research
Professor of Medicine
Graduate Program Membership: BMS, PSPG
Dr. Vaisse focuses on the identification of genetic defects implicated in multi-factorial metabolic diseases such as obesity and diabetes. His work combines human genetic approaches with molecular biology and animal studies, concentrating on the molecular mechanisms of the adipocyte secreted, weight regulating hormone, leptin. After finding that genetic alterations in the Melanocortin 4 receptor (MC4R), a mediator of the hypothalamic effects of leptin, are responsible for both rare and common forms of human obesity, he has been investigating the frequency of mutations in the MC4R gene as well as additional candidate genes in large cohorts of obese patients.