Faculty

Dr. Akhurst’s research is focused on mouse developmental and cancer genetics, and the translation of findings to study of human vascular diseases and cancer. Her group is characterizing genetic modifiers of TGFbeta signaling and how these genomic variants alter the outcome of disease processes. TGFbeta signaling is a central player in cancer, vascular, and stem cell biology, as well as cancer drug-resistance, thus these basic science questions provide critical insights into human disease mechanisms.

Mark Anderson, MD, PhD

Robert B. and Michelle M. Friend Endowed Chair in Diabetes Research
Professor of Medicine
Graduate programs: BMS

Dr. Anderson studies a human autoimmune syndrome called Autoimmune Polyglandular Syndrome Type 1 (APS1 or APECED), classically manifested by an autoimmune attack directed at multiple endocrine organs. This disease is inherited in a monogenic autosomal recessive fashion and the defective gene is called Aire (for autoimmune regulator). Aire knockout mice, like their human counterparts, develop an autoimmune disease that is targeted to multiple organs. He and others have determined that Aire plays an important role in immune tolerance by promoting the expression of many self proteins in specialized antigen presenting cells in the thymus called medullary epithelial cells.

Allan Balmain, PhD, FRSE

Barbara Bass Bakar Endowed Chair in Cancer Genetics
Cancer Research Institute and Biochemistry and Biophysics
Graduate Program Membership: BMS, PSPG

Dr. Balmain’s laboratory uses crosses between highly genetically divergent strains of mice to explore the genetic basis of cancer susceptibility. His group has identified several of the somatic genetic events involved in initiation or progression of cancers induced by exposure to chemical mutagens or radiation. Recent emphasis is on computational approaches to the analysis of gene expression architecture in normal tissues and cancers from the same animals, as a route to unraveling the complex networks that underlie cancer susceptibility.

Sourav Bandyopadhyay, PhD

Assistant Professor of Bioengineering and Therapeutic Sciences
Graduate Program Membership: BMI, BMS, DSCB, PSPG

Website | UCSF Faculty Profile

The Bandyopadhyay lab uses systems biology approaches to understand how cellular pathways are organized and reshaped in diseases. We are developing new high throughput protein-protein and genetic interaction mapping platforms and computational approaches for integrating experimental data with larger pictures of pathways and networks. The major focus of the lab is on developing networks maps to dissect components of oncogene addiction and to identify new precision therapies in cancer.

Sergio E. Baranzini, PhD

Professor in Residence of Neurology
Graduate Program Membership: BMI

Dr. Baranzini’s research focuses on mechanisms underlying susceptibility to common diseases, prediction of therapeutic response, and innovative approaches to drug discovery. Through a combination of wet lab (genetic and immunological approaches) and computational methods, the Baranzini lab investigates combinations of DNA variants that confer susceptibility to diseases in the context of the biological pathways, gene networks, and regulatory influences. In particular, efforts to integrate multiple data domains to understand susceptibility and phenotype heterogeneity (including response to therapeutic drugs) in multiple sclerosis (MS) are underway. In addition, research about the influence of the microbiome in MS susceptibility and expressivity is ongoing.

Brian Black, PhD

Professor of Biochemistry
Investigator, Cardiovascular Research Institute
Graduate Program Membership: BMS, DSCB, Tetrad

Website | UC Berkeley Plant & Microbial Biology

Dr. Black’s research program focuses on transcriptional control of organogenesis to understand normal development, the molecular basis for congenital defects, and potential mechanisms for organ regeneration and repair. Using mouse as a model system, his current efforts are aimed at understanding pathways that control cardiovascular and craniofacial development. Using a combination of conditional gene knockouts, transgenic reporter assays, and biochemical, genomic and computational approaches, he is defining how tissues and cells are organized during organogenesis and how cells receive and interpret positional information. The ultimate goal is to develop diagnostic and therapeutic interventions.

Steven Brenner, PhD

Adjunct Professor of Bioengineering and Therapeutic Sciences
Department of Molecular & Cell Biology, UC Berkeley
Graduate Program Membership: BMI

Dr. Brenner is a computational biologist with a variety of interests spanning from cell biology to human genetics. Areas of current interest include gene regulation by alternative splicing and nonsense-mediated mRNA decay; prediction of protein function using Bayesian phylogenetics; medical and environmental metagenomis; structural genomics and protein complexes; and application of next generation sequencing in the clinical genetic setting.

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.

Esteban Burchard, MD

Professor of Bioengineering & Therapeutic Sciences and of Medicine
Director, Center for Genes, Environments & Health
Graduate Program Membership: BMS, PSPG

The Burchard Lab studies asthma and therapeutic response in racial and ethnically diverse populations, and the variation in asthma risk among populations. By studying several populations at once we can identify those risk factors that are common to all groups while also identifying those risk factors that are specific to one racial group. In addition, the rich and mixed ancestry of worldwide populations can be leveraged to untangle complex gene-environment (G x E) interactions in disease susceptibility and drug response.

Jeffrey Bush, PhD

Associate Professor of Cell and Tissue Biology
Graduate Program Membership: BMS, DSCB, OCS

Dr. Bush’s research involves understanding the mechanisms by which signaling between cells coordinates morphogenesis and how this control is disrupted to cause congenital disease, particularly those affecting face morphogenesis. One focus is craniofrontonasal syndrome, an X-linked condition affecting multiple aspects of craniofacial, skeletal and neurological development which is caused by mutations in the EPHRIN-B1 gene. The lab is utilizing mouse genetics, phospho-proteomics, cell biology and biochemistry to understand the basic mechanisms by which ephrin-B1 controls these disease processes. Another lab interest lies in the genetic and developmental etiology underlying orofacial clefting, a common class of congenital craniofacial anomaly.

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

BCHSI Website | Lab Website | Immport Website | UCSF Faculty Profile

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.

Sharon Chung, MD

Associate Professor of Medicine

The central goal of Dr. Chung’s research program is to discover genetic and epigenetic factors that influence autoimmune disease susceptibility and its manifestations, in order to identify biologic pathways involved in disease pathogenesis and potential targets for therapeutic intervention. Current projects focused on systemic lupus erythematosus (SLE) include genome-wide association studies, more focused investigations of the major histocompatilibity complex, and DNA methylation studies of specific disease manifestations. Her clinical interest is systemic vasculitis, and she directs the UCSF Vasculitis Clinic. Her research activities in vasculitis include genetic, epigenetic, and transcriptional studies of small vessel vasculitides.

James Cleaver, PhD

Professor Emeritus of Dermatology and of Pharmaceutical Chemistry
Graduate Program Membership: BMS

Dr. Cleaver focuses on human DNA repair deficient hereditary diseases, especially xeroderma pigmentosum (XP) and Cockayne Syndrome (CS), which present increased solar-induced cancers, and developmental and neurological disorders. He is carrying out whole exome sequencing of non-melanoma skin cancers that occur with extremely high frequency in an inbred XP community in Central America. He is also characterizing redox dysregulation of CS cells and identifying mitochondrial and extracellular sources of oxidative DNA damage in fibroblasts and neurons. His laboratory is developing induced pluripotent stem cells from XP and CS fibroblasts to investigate mechanisms of neurodegeneration that may lead to therapeutic intervention.

Bruce Conklin, MD

Senior Investigator, Gladstone Institutes
Professor of Medicine and of Cellular & Molecular Pharmacology
Graduate Program Membership: BMI, BMS, PIBS, PSPG

Dr. Conklin uses induced pluripotent stem (iPS) cells, both from patients and engineered to have particular mutations to model human disease. His laboratory’s major focus is on genes that cause “sudden death” due to abnormal heart rhythm and heart failure from cardiomyopathy. Recent genetic studies provide gene variant associations that are largely untested. Comparing iPS cells with engineered, discrete mutations in an isogenic background provide an experimental system to directly test these genetic associations. Personalized medicine can benefit from experimental testing of gene variants to prove (or disprove) hypothetical genetic associations.

Lindsey Criswell, MD, MPH, DSc

Vice Chancellor, Research
Chief, Division of Rheumatology

Professor, Departments of Medicine & Orofacial Sciences

Jean S. Engleman Distinguished Professor in Rheumatology

Graduate Program Membership: BMS

Dr. Criswell’s research program is the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and systemic lupus erythematosus. Through genome wide association studies, they have contributed to the identification of over 30 risk genes, highlighting key biologic pathways responsible for disease onset and progression. Her lab is also devoting substantial effort to refining genotype-phenotype associations, such as the specificity of genetic associations for serologic or clinical subphenotypes, and to studies designed to better understand ethnic differences in disease risk and outcome. Lastly, they have initiated several epigenetic studies that focus on DNA methylation.

Aaron Diaz, PhD

Assistant Professor of Neurological Surgery
Graduate Program Membership: BMS

Dr. Diaz studies the role of neurodevelopmental programs in malignant gliomas, using computational and systems approaches. By contrasting genetic and epigenetic signatures between the developing human cortex and human brain tumors, Dr. Diaz is elucidating developmental pathways that are aberrantly activated during oncogenesis, promoting tumor growth and self-renewal. The Diaz lab is currently using high-throughput, single-cell assays, coupled with modern techniques from machine learning and data science, to identify therapeutic targets within these critical pathways.

David J. Erle, MD

Professor, Department of Medicine
Graduate Program Membership: BMS

Dr. Erle uses functional genomics approaches to study transcriptional and post-transcriptional gene regulation. His laboratory focuses on model systems that are relevant for lung biology and airway diseases, especially asthma. The laboratory has developed massively parallel assays for studying DNA and RNA regulatory elements and is using these approaches to study gene regulation during normal airway epithelial cell development and in response to key asthma mediators. In addition, Dr. Erle directs a UCSF core laboratory that has collaborated on hundreds of functional genomics projects.

Laura Fejerman, PhD

Associate Professor of Medicine

Dr. Fejerman focuses on the discovery of genetic and non-genetic factors that contribute to breast cancer risk and prognosis in Latinas. Her past work established a relationship between genetic ancestry and breast cancer risk, where higher European ancestry in U.S. and Mexican Latinas was associated with an increased risk. Her subsequent research has built upon this observation, exploring genetic variants, through admixture mapping and genome-wide association approaches, as well as the possible environmental and lifestyle related factors, and ancestry-gene interactions. Recent work explores disparities in breast cancer prognosis by genetic ancestry in Latinas and its potential causes.

Elena Flowers, PhD

Assistant Professor
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.

Ying-hui Fu, PhD

Professor of Neurology
Graduate Program Membership: BMS

Dr. Fu’s research uses human genetics combined with multiple model organisms to investigate molecular mechanisms of human circadian rhythm and sleep behaviors. Over the last 15 years, she and her colleagues identifiedseveral mutations that lead to extreme morning lark phenotype. In addition, they are investigating the genetic basis for human subjects to have shorter sleep duration. Since circadian rhythm and sleep homeostasis are intimately connected with many physiological pathways including metabolism, immune function, and mood regulation, to name but a few, these studies will also shed new light on how sleep schedule and sleep homeostasis can impact on health.

Renata Gallagher, MD, PhD

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.

Kathleen Giacomini, PhD

Professor and Co-Director, UCSF-Stanford Center of Excellence in Regulatory Sciences and Innovation, Department of Bioengineering and Therapeutic Sciences
Graduate Program Membership: BMI, BMS, PSPG

Dr. Giacomini’s research focuses on the pharmacogenetics of membrane transporters, which play a major role in drug disposition and response. She is leading an effort to understand the implications of genetic variation in over 100 membrane transporters on clinical drug response. Studies include a focus on the anti-diabetic drug metformin and on anti-cancer drugs, have demonstrated that common variants of membrane transporters contribute to variation in drug response. Ultimately, the information obtained from these studies will be used in personalizing drug therapy and to design drugs to better treat subsets of patients who do not respond to standard treatments.

Jane Gitschier, PhD

Professor Emeritus of Medicine and of Pediatrics

Dr. Gitschier is interested in discovering the genetic basis for absolute pitch, the uncanny ability to identify the pitch of a tone without a reference tone. This study has generated new insights into pitch perception. A second research area involves genetic genealogy and privacy. With a passion for genetics history, she is also the interviews editor for the open access journal PLoS Genetics and is currently working on a book project on the dawn of human molecular biology in the 1970s.

Doug Gould, PhD

Professor & Director of Research, Departments of Ophthalmology and Anatomy

Graduate Program Memberships: BMS, Tetrad

Website | UCSF Faculty Profile

Dr. Gould studies a variety of developmental and progressive diseases (ocular dysgenesis, glaucoma, optic nerve hypoplasia, retinal degeneration, cerebrovascular disease, hemorrhagic stroke, cerebral cortical development and muscular dystrophy). The common thread through these seemingly disparate diseases is that all can be caused by mutations in genes encoding basement membrane proteins. Far from being simply ‘structural’ components, basement membrane proteins participate in dynamic ways to influence cell proliferation, migration and differentiation and are important factors in development and disease. To address these problems he employs genetic tools including conditional mutants, an allelic series, modifiers, molecular biology, and human genetics.

Su Guo, PhD

Professor of Bioengineering and Therapeutic Sciences
Graduate Membership: DSCB, Neuroscience, PSPG, Tetrad

Dr. Guo has a broad background in molecular biology, genetics, developmental biology, neurobiology, and is interested in the molecular genetic mechanisms that regulate brain development and function. Dr. Guo’s laboratory employs zebrafish and mammalian cell models to study the molecular genetics of neural development and behavior, with the ultimate goal of broadening our basic understanding of the brain and the mind, as well as to help treat neuropsychiatric disorders.

Stephen Hauser, MD

Professor and Chair, Department of Neurology

Dr. Hauser studies genetic susceptibility to multiple sclerosis. For more than 15 years, Dr. Hauser has led the Multiple Sclerosis Genetics Group, a consortium of investigators at multiple sites across the US. He collaborated on the formation of an international MS consortium and is now the leader of a large consortium project on the genetics of MS. His contributions include efforts to identify informative MS families for linkage studies, collaboration on linkage studies and linkage disequilibrium studies to map genes, and finally larger scale association studies, both candidate genes and genome-wide, to identify MS susceptibility loci.

Tom Hoffmann, PhD

Associate Professor of Epidemiology & Biostatistics
Graduate Program Membership: ETS

Dr. Hoffmann is interested in statistical design and analysis methods for the genetical basis of a wide variety of human diseases. He has been involved in a number of projects to identify and characterize the genetic basis of common diseases, including the Kaiser Permanente Research Program on Genes, Environment and Health. He helped design and analyze the genotyping arrays used in that project, and has focused on analysis of cardiovascular outcomes including hyperlipidemia and hypertension, and has developing interest in age-related hearing loss. He has also developed new methods for analysis of NGS data.

Jill Hollenbach, PhD, MPH

Associate Professor of Neurology

Graduate Program Membership: BMI

Dr. Hollenbach’s research focuses on analysis of the human leukocyte antigen (HLA) and killer immunoglobulin-like receptor (KIR) immunogenetic systems. Beside their critical role in transplantation, over 100 infectious, autoimmune, cancer and pharmacological diseases are associated with variation of HLA and KIR. Her work spans the population genetics, evolution, and influence on health of these genes, with emphasis on their role in neurological disease. Her lab also develops software tools specifically designed for these data. Other projects include examination of alternative measures of self-reported ancestry with respect to genetics, and the relationship between patient-reported and clinician-defined disability in multiple sclerosis.

Edward Hsiao, MD, PhD

Associate Professor of Medicine
Graduate Program Membership: BMS, OCS

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.

Franklin Huang, MD, PhD

Assistant Professor, Department of Medicine
Graduate Program Membership: PSPG

Dr. Huang studies biological processes relating to cancer disparities with a focus in prostate cancer. His lab uses cancer genomics including single-cell approaches to understand mechanisms that drive lethal, aggressive disease. The systems span from cell culture to in vivo model and his laboratory uses computational and experimental approaches to understand how cancer genes are regulated and how they function in cells. A major focus is to identify and uncover roles for cancer genes and identify new cancer vulnerabilities. Another focus of the lab is to understand the genomics of telomere maintenance in cancer cells.

Katherine Hyland, PhD

Professor of Biochemistry & Biophysics

Dr. Hyland focuses on curriculum development and innovation in professional education. She directs the Medical Genetics component of the integrated medical school curriculum. She currently serves as Chair of the Essential Core Course Committee, and is a member of the Haile T. Debas Academy of Medical Educators, where she has served as co-Chair of Faculty Development. She is Chair of the Genetics Course Directors group within the Association of Professors of Human and Medical Genetics, and has led an effort to update the medical genetics core curriculum competencies.

Yuet Wai Kan, MBBS, DSc, FRS

Louis K. Diamond Chair in Hematology
Professor of Medicine and of Laboratory Medicine

Dr. Kan’s current research exploits the use of stem cells to treat hemoglobin disorders and HIV infection. His laboratory utilizes homologous recombination to correct mutations in sickle cell disease and thalassemia in the patients’ induced pluripotent stem cells and hematopoietic stem cells for auto-transplantation. To treat HIV infection, the precise 32-basepair deletion is introduced seamlessly into both CCR5 alleles to make the hematopoietic cells resistant to HIV as in individuals homozygous for the CCR5∆32 mutation. To facilitate homologous recombination, synthetic site-specific nucleases, TALENs and CRISPR/CAS, are employed. These approaches may one day realize the “cure” of these and other diseases.

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.

Helen Kim, PhD

Associate Professor of Anesthesia & Perioperative Care and of Epidemiology & Biostatistics

Dr. Kim focuses on identifying genetic factors that predispose individuals to stroke and outcomes after stroke. Her group studies families or individuals affected with cerebrovascular malformations, including arteriovenous malformations, cerebral cavernous malformations, intracranial aneurysms, and hereditary hemorrhagic telangiectasia. Current genetic epidemiology projects use whole genome SNP and expression arrays, and next-gen sequencing to identify genetic variation associated with disease susceptibility or progression. The long-term objective is to improve patient outcomes by identifying gene targets for therapy and factors to facilitate risk stratification of patients most amenable for clinical intervention.

Ophir Klein, MD, PhD

Larry L. Hillblom Distinguished Professor in Craniofacial Anomalies
Charles J. Epstein Professor of Human Genetics
Professor of Orofacial Sciences and Pediatrics
Chief, Division of Genetics
Chair, Division of Craniofacial Anomalies
Medical Director, Craniofacial Center
Director, Program in Craniofacial Biology
Graduate Program Membership: BMS, DSCB, OCS, PSPG
Website | UCSF Faculty Profile

Dr. Klein’s research is centered on understanding how development normally occurs, in the hope of one day treating diseases that result from abnormalities in these processes. He focuses largely on craniofacial and dental development, as malformations in these organs are among the most common congenital abnormalities and have profound impacts on the lives of patients and their families. He also studies normal and perturbed development of the skeleton, taste papillae, external genitalia, gastrointestinal tract, and other organs; and investigates how embryonic and adult stem cells self-renew and differentiate.

Barbara Koenig, PhD

Professor, Institute for Health and Aging, and Department of Anthropology, History, and Social Medicine

Director, UCSF Bioethics

Dr. Koenig is an anthropologist working in the inter-disciplinary field of bioethics. She founded and led Biomedical Ethics Research Programs at Stanford and Mayo Clinic. Dr. Koenig pioneered the use of empirical methods in the study of ethical questions in science, medicine, and health. Her current interests include characterizations of race in a genomics age, emerging genomic technologies, including biobanking, return of research results to participants, and using deliberative democracy to engage communities about research governance. She has been an active participant in policy development both at a federal level and through her role as fellow of the Hastings Center.

Deanna Kroetz, PhD

Professor of Bioengineering & Therapeutic Sciences and of Pharmaceutical Chemistry
Graduate Program Membership: PSPG

Dr. Kroetz is interested in identifying genetic predictors of drug response and toxicity. Current studies are focused on taxane-induced peripheral neuropathy in breast cancer, bevacizumab-related hypertension in colorectal cancer patients and immune non-responders in African cohorts of HIV patients on antiretroviral therapy. Genome-wide association studies and exome sequencing are used to identify genetic variants and genomic regions associated with these drug response phenotypes. Novel genes are functionally characterized using cell culture and model organisms to understand the molecular basis for observed clinical associations.

Miriam Kuppermann, PhD

Professor of Obstetrics, Gynecology & Reproductive Sciences

Dr. Kuppermann has an active research program focusing on informed decision making in the context of prenatal and adult genetic testing. Dr. Kuppermann has led numerous NIH, AHRQ, foundation and industry-funded studies of these issues in socio-demographically diverse populations, which have included conducting extensive formative research on patient preferences and experiences, developing decision tools with values clarification components, and conducting randomized controlled trials of the effectiveness of these tools among patients facing genetic testing decisions.

Theodore Kurtz, MD

Professor and Vice Chair, Department of Laboratory Medicine
Director, Clinical Chemistry, UCSF Medical Center

Dr. Kurtz focuses on the molecular genetics and therapeutics of experimental models of hypertension and the metabolic syndrome. This work involves the identification of genes and new therapies related to hypertension and the metabolic syndrome and the development of transgenic models for these disorders.

Pui-Yan Kwok, MD, PhD

Henry Bachrach Distinguished Professor
Professor of Dermatology and Investigator, Cardiovascular Research Institute
Graduate Program Membership: BMS, PSPG, Tetrad

Dr. Kwok’s research focuses on the development and use of state-of-the-art strategies to identify genetic factors associated with complex human traits. He and colleagues recently developed new technologies for single molecule analysis, resulting in a new platform for genome-wide mapping of structural variations, haplotyping, and de novo sequence assembly. In collaborations, he studies the genetics of longevity, sudden cardiac arrest, bipolar disorder, scleroderma, brain arteriovenous malformations, adverse drug reactions, and kidney transplantation outcome. Recently, he and collaborators generated genome-wide SNP profiles of >100,000 individuals with comprehensive health records to identify genetic and environmental factors associated with a multitude of conditions.

Yun-Fai Chris Lau, PhD

Professor of Medicine
Research Career Scientist, VA Medical Center, San Francisco

Dr. Lau is interested in understanding the functions of the Y chromosome genes and their homologues in human development, physiology and disease. Recent efforts are focused on the gene regulatory hierarchy in mammalian sex determination and differentiation, the contrasting roles of a Y-located oncogene and its X-homologue tumor suppressor in human oncogenesis, and the contributions of the Y chromosome genes in sexual dimorphisms in human diseases, such as autism, Hirschsprung disease, and hepatocellular carcinoma with high male preference in the respective patient populations. Various advanced molecular genetic, genomic, proteomic, and transgenic mouse modeling strategies are utilized in these studies.

Wilson Liao, MD

Associate Professor of Dermatology
Graduate Program Membership: BMS, PSPG

Dr. Liao’s research group is engaged in identifying the genetic and environmental determinants of skin diseases, particularly psoriasis. His group has contributed to the identification of more than 20 psoriasis genes through genome-wide association studies and functional mapping. Dr. Liao is a dermatologist and co-directs the UCSF Psoriasis Center, where numerous translational research projects are ongoing. Current projects include the identification of additional novel psoriasis genes, analysis of skin transcriptome expression networks,and analyzing the role of diet and the microbiome in modulating psoriasis severity, systemic inflammation, and associated co-morbidities.

Alex Marson, MD, PhD

Associate Professor of Microbiology and Immunology, Scientific Director of Biomedicine, Innovative Genomics Institute (IGI)
Graduate Program Membership: BMS

Our lab decodes genetic circuits that control human immune cell function in health and disease. We have begun to identify autoimmunity risk variants that disrupt immune cell circuits. We have developed tools for CRISPR genome engineering in primary human T cells. We are testing how coding and non-coding genetic variation controls functional programs in the immune system. Genome engineered human T cells hold great potential for the next generation of cell-based therapies for cancer, autoimmunity, and infectious diseases.

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.

Mary Norton, MD

Professor and Vice Chair for Clinical and Translational Genetics
David E. Thorburn, MD and Kate McKee Thorburn Endowed Chair in Perinatal Medicine and Genetics
Department of Obstetrics, Gynecology and Reproductive Sciences

Dr. Norton’s interests include genetic testing and its application to prenatal screening and diagnosis. She focuses on the unique aspects of translating new technologies into improved care for pregnant women and their fetuses, and the complexities of the maternal fetal dyad. She leads a multinational study at the The Center for Cosmetic & Reconstructive Gynecology on the use of cell free DNA testing in average risk women for the detection of fetal aneuploidy. Current projects include mechanisms and disorders associated with nonimmune hydrops fetalis and potential for in utero therapy; and application of whole exome and genome sequencing in the prenatal context.

Jorge Oksenberg, PhD

G.A. Zimmermann Endowed Chair in Neurology
Professor of Neurology

Dr. Oksenberg’s research is focused on human immunogenetics and autoimmunity, and he is a leading investigator in the International Multiple Sclerosis Genetics Consortium. The availability of sensitive and high-capacity methods for analysis of gene variation and expression, combined with the implementation of algorithms that predict behaviors in complex biological circuits, provides an outstanding opportunity to facilitate progress in the integration of multiple data sources and functional interpretation of physiological and laboratory results. His goal is to illuminate fully the genetics of autoimmune demyelination.

Akinyemi Oni-Orisan, PharmD, PhD

Assistant Adjunct Professor, Department of Clinical Pharmacy
Graduate Program Membership: PharmD

Dr. Oni-Orisan’s overall research goal is to improve pharmacological regimens for the prevention and treatment of cardiovascular disease. His research combines approaches in pharmacogenomics, pharmacometrics, and pharmacoepidemiology to advance precision medicine in cardiovascular disease. His current work involves the characterization of lipid-modifying agents for atherosclerotic cardiovascular disease through the utilization of electronic health records. He is also interested in interindividual response to other therapies (e.g., antihypertensives, antiplatelets, anti-diabetics) that also reduce the risk of cardiovascular disease.

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.

Ludmila Pawlikowska, PhD

Associate Professor of Anesthesia

Dr. Pawlikowska studies genomics of complex human phenotypes, including stroke, longevity and cardiovascular phenotypes. Her main focus is genetics of vascular malformations, including brain AVMs, an important cause of stroke in young adults, and Hereditary Hemorrhagic Telangiectasia. Approaches include genome-wide association studies, screening for rare variants and investigation of somatic variation. A second focus is genetics of human aging and longevity, via the Longevity Consortium; current work includes transcriptome sequencing to correlate gene expression with varying lifespan and stress resistance in bird species. Other projects include admixture mapping of cardiovascular traits and genetic variation in Chronic Obstructive Pulmonary Disease.

Kathryn Phillips, PhD

Professor of Health Economics & Health Services Research
Director and Founder, UCSF Center for Translational and Policy Research on Personalized Medicine

Dr. Phillips examines how health care is organized, delivered, and financed. She focuses on the translation of new technologies into improved patient outcomes, particularly personalized/precision medicine and its impact on clinical care, health economics, and health policy. She is currently leading a large NIH study on benefit-risk tradeoffs for whole genome sequencing. Her cross-disciplinary, cross-sector research integrates perspectives across basic, clinical, and social sciences and spans the divide between academia, industry, health care payers, and government. Research interests include use and adoption of new technologies, cost-effectiveness of care, evidence synthesis, and cancer care and prevention.

Katherine Pollard, PhD

Senior Investigator, Gladstone Institutes
Professor of Epidemiology & Biostatistics
Graduate Program Membership: BMI, ETS

Dr. Pollard develops statistical and computational methods for the analysis of genomic datasets. Her research focuses on genome evolution, in particular identifying DNA sequences that differ significantly between or within species, and the sequences’ relationship to biomedical traits. Many of these sequences are non-coding, such as enhancers and RNA genes. The group aims to pinpoint specific DNA alterations in these sequences that are responsible for changes in gene expression. Current projects focus on two major areas: identifying the genetic basis for human-specific traits, such as our susceptibility to AIDS and atherosclerosis; and characterizing the human microbiome through metagenomic data.

Louis Ptáček, MD, PhD

John C. Coleman Distinguished Professorship in Neurodegenerative Diseases
Professor of Neurology
Graduate Program Membership: BMS, Neuroscience, Tetrad

Dr. Ptáček focuses on study of families with genetic phenotypes aiming to map and clone genes and mutations. In some cases, his laboratory has identified and characterized novel human phenotypes. They’ve localized and cloned genes for many episodic phenotypes, neurodegenerative disorders, and human circadian variants. Assorted techniques are then applied to study the encoded proteins to examine functional consequences of mutations and to link these with understanding of disease pathogenesis. They also generate animal models of human mutations in mice and Drosophila. Such work translates from patients to biological understanding and ultimately, helps in diagnosis and treatment of human diseases.

Jennifer Puck, MD

Professor of Pediatrics
Medical Director, Pediatric Clinical Research Center
Graduate Program Membership: BMS, PSPG

A pioneer in human primary immunodeficiencies, Dr. Puck’s research contributions include identification of genes for X-linked severe combined immunodeficiency (XSCID) and autoimmune lymphoproliferative syndrome (ALPS) and definition of the disease and gene defects in STAT3 in hyper-IgE syndrome. She designed the first newborn screening test for severe combined immunodeficiency (SCID) based on measuring T cell receptor excision circles (TRECs) in DNA isolated from infant dried blood spots and is the Immunology Expert for California’s SCID Newborn Screening Program. She uses genomics, cellular immunology and model organisms to study the underlying causes of low T lymphocytes and new approaches to treatments.

Aleksandar Rajkovic, MD, PhD

UCSF Chief Genomics Officer
Professor, Department of Pathology, and Obstetrics, Gynecology and Reproductive Sciences

Our interests lie in the basic and translational research in reproductive genomics. We study reproductive tract pathologies in the context of developmental biology. We use both human studies and animal models to discover genes relevant to human pathologies. Our studies aim to reveal mechanisms of reproductive tract development, from embryo to adulthood, as well as to identify diagnostic and therapeutic targets for reproductive pathologies such as ovarian failure, uterine fibroids, and reproductive tract cancers.

Jeremy Reiter, MD, PhD

Professor of Biochemistry and Biophysics
Graduate Program Membership: BMS, DSCB, Tetrad

Dr. Reiter investigates the ways in which cells communicate with each other during normal development and how this communication goes awry in disease. Much of his recent work has focused on the functions of primary cilia, Hedgehog signals, cancer, and wound healing. The Reiter lab has been elucidating mechanisms by which cilia transduce signals such as Hedgehogs, demonstrating that cancer cells can be ciliated and that cilia mediate Hedgehog-related oncogenesis, and elucidating how a region of the cilium, the transition zone, controls ciliary composition. Mutations in genes encoding transition zone components underlie a spectrum of diseases, now being called ciliopathies.

Neil Risch, PhD

Lamond Family Foundation Distinguished Professor in Human Genetics
Professor of Epidemiology & Biostatistics
Director, Institute for Human Genetics
Graduate Program Membership: BMI, BMS, ETS, PSPG

Dr. Risch focuses on the development and application of statistical methods to address problems in human population genetics and genetic epidemiology. This has involved numerous projects using linkage analysis and positional cloning to identify novel disease genes, such as the genes causing hemochromatosis and torsion dystonia, as well as methodology for dissection of genetically complex traits including autism, hypertension, and multiple sclerosis. He has also spearheaded the approach of genome-wide association studies, the recent mainstay of human genetic analysis, and developed with investigators at Kaiser Permanente Northern California Division of Research a large genetic epidemiology research cohort on aging.

Stephan Sanders, BMBS, PhD

Assistant Professor, Department of Psychiatry
Graduate Program Membership: Neuroscience

Dr. Sanders is a geneticist and pediatrician who works on the genetics of childhood neurodevelopmental disorders, in particular Autism Spectrum Disorder (ASD). His lab specializes in bioinformatics, including microarray, exome sequencing, and whole-genome sequencing to identify genetic loci, map genomic architecture, and understand the sex bias seen in ASD. One major goal is to identify specific genes that contribute to these disorders, for example the sodium channel gene SCN2A is commonly mutated in ASD, as an entrée into the underlying biology.

Mark Segal, PhD

Professor of Epidemiology and Biostatistics
Director, Center for Bioinformatics and Molecular Biostatistics
Graduate Program Membership: BMI, PSPG, ETS

Dr. Segal focuses on the development and application of statistical methods to address problems in computational biology and genomics. He has devised methods for addressing several aspects of analyzing data deriving from high-throughput biotechnologies, straddling low-level (e.g., pre-processing) to high-level (e.g., linked survival phenotypes, regulatory module elicitation) approaches. He is currently engaged in developing and comparing methods for inferring 3D genome architecture utilizing data from chromatin conformation capture assays.

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.

Licia Selleri, MD, PhD

Professor of Craniofacial Biology
Graduate Program Membership: BMS, OCS DSCB

Dr. Selleri studies the genetic basis of how elaborately patterned tissues form during development. Her laboratory combines different genetic approaches, using the mouse as a model, to understand basic developmental processes related to cranial and appendicular morphogenesis. The laboratory discovered that homeodomain-containing transcription factors of the Pbx family, also known as Hox-cofactors, are critical developmental regulators through the transcriptional control of target genes within tissue-specific regulatory networks.Using genetically-engineered and ethylnitrosourea (ENU)-mutagenized mouse models the ultimate goal of the laboratory is to identify novel genes and regulatory networks underlying morphogenesis of embryonic structures, morphological variation, evolution, and human congenital disease.

A. Hunter Shain, PhD

Assistant Professor, Department of Dermatology

Dr. Shain utilizes a variety of –omic approaches to better understand the biology of melanoma. The laboratory has made important contributions discovering melanoma driver genes and delineating the evolution of melanoma. These areas remain an important focus of the laboratory. The laboratory is also heavily engaged in single-cell DNA/RNA sequencing, illuminating many aspects of cancer biology that are poorly understood due to limitations of current technologies geared towards bulk cell analyses.

Yin Shen, PhD

Assistant Professor of Neurology
Graduate Program Membership: BMS

Dr. Shen studies the fundamental mechanisms of transcriptional control underlying cellular function. Her research utilizes human pluripotent stem cells to model development and complex diseases as well as innovative genomic and genetic tools to investigate how regulatory elements affect gene expression. Her lab focuses on elucidating the causal relationship between genetic and epigenetic variations at regulatory sequences, e.g. enhancers and neurodevelopment and neurological diseases, and how these factors interplay to control gene regulation in mammalian cells.

Elliott Sherr, MD, PhD

Associate Professor of Neurology
Graduate Program Membership: BMS

Dr. Sherr’s lab, the Brain Development Research Program (BDRP), aims to uncover the clinical characteristics, genetic mechanisms, and disruptions in biochemical pathways involved in childhood neurologic diseases such as autism and disorders of cognition. The scientific approaches employed by Dr. Sherr’s laboratory include next generation sequencing, linkage analysis, candidate gene and CNV discovery approaches, coupled with clinical phenotyping and advanced imaging. Additionally, Dr. Sherr is studying the causes of childhood epileptic encephalopathies using similar genetic approaches. He is also directing the imaging portion of the Simons Variation in Individuals Project to investigate the medical, cognitive, and behavioral features of individuals with 16p11.2 deletions or duplications.

Joseph T.C. Shieh, MD, PhD

Associate Professor of Pediatrics
Graduate Program Membership: BMS

Birth defects affect 1 in 33 babies, and many of these children need specialized treatment. Dr. Shieh sees these patients in Genetics and also sees families with Undiagnosed Conditions. His lab aims to understand, predict and prevent disease by integrating high-throughput genomic data analyses with epigenetics. Current projects include studies of copy number variation and disease, the regulatory role of non-coding RNA in human disease and model systems, predisposing factors for the development of congenital heart defects, and epigenetic determinants of congenital anomalies in twins.

Marina Sirota, PhD

Associate Professor, Institute for Computational Health Sciences

Dr. Sirota is interested in developing computational methods in integrative biology and applying these approaches in the context of disease diagnostic and therapeutics. She has extensive background in bioinformatics and data integration in the context of drug repositioning, drug target identification, clinical and molecular data analysis. Dr. Sirota has a long standing interest in studying genetic architecture in complex disease as well as novel applications of next-generation sequencing techniques with a special focus on autoimmune disease.

Anne Slavotinek, MB.BS, PhD

Professor of Clinical Pediatrics

Dr. Slavotinek specializes in research on multiple congenital anomaly syndromes and birth defects. Her research has focused on gene identification in patients with developmental eye defects, such as anophthalmia (absent eyes) and microphthalmia (small eyes). Her laboratory primarily uses array comparative genomic hybridization and next-generation sequencing to identify chromosomal regions of interest and/or candidate genes and Danio rerio as an animal model system to determine the effects of loss or gain of candidate gene function on eye development.

Deepak Srivastava, MD

Wilma and Adeline Pirag Distinguished Professor in Pediatric Developmental Cardiology Director, Gladstone Institute of Cardiovascular Disease
Professor of Pediatrics
Graduate Program Membership: BMS, Tetrad

Dr. Srivastava focuses on using knowledge of cardiac developmental pathways to devise novel therapeutics for human cardiac disorders. Specifically, he studies the molecular events regulating early and late developmental decisions that instruct progenitor cells to adopt a cardiac cell fate and subsequently fashion a functioning heart, and seeks ways to use these pathways to prevent congenital defects and reprogram cells to regenerate damaged hearts. He also seeks to identify the causes of human cardiovascular disease by applying modern genetic technologies for the study of complex traits and using induced pluripotent stem (iPS) cells to model human genetic disorders.

Matthew State, MD, PhD

Professor and Chair, Department of Psychiatry

Dr. State focuses on gene discovery as a means to elaborate the molecular and cellular mechanisms underlying childhood onset neuropsychiatry disorders, with a particular focus on autism, Tourette disorder and childhood onset schizophrenia. His lab leverages both traditional mapping techniques, including in consanguineous families, as well as high throughput genomic methods in large patient cohorts. His lab is also currently working on generating and integrating data on gene regulation and expression to seek points of mechanistic, spatial and temporal convergence among divergent genes contributing to a common psychiatric presentation.

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.

Jessica Van Ziffle, PhD

Assistant Professor, Department of Pathology

Dr. Van Ziffle directs clinical molecular genetic testing at the UCSF Clinical Cancer Genomics Lab (CCGL), and Genomic Medicine Lab (GML). Molecular testing techniques include single gene testing, as well as highly multiplexed deep sequencing technologies. The aim of this testing is to identify therapeutic targets, clarify a patient’s diagnosis, or establish a patient’s molecular diagnosis. Of particular interest are the genomics of hematopoietic malignancies, the heritable causes of these malignancies, and the clinical utility of exome sequencing for inherited diseases. Ongoing projects aim to improve the delivery of genomic information to patients through the electronic health record system.

Jeff Wall, PhD

Professor of Epidemiology & Biostatistics
Graduate Program Membership: BMI, BMS, PSPG

Dr. Wall’s research spans a wide range of topics in evolutionary and human genetics, including models of speciation, inference of population history from sequence polymorphism data, and analyses of whole genome association study data in admixed populations. Recent studies have focused on the contribution of archaic hominid ancestry in human populations.

Lauren A. Weiss, PhD

Staglin Family / IMHRO Associate Professor of Psychiatry • Weill Institute for Neurosciences
Graduate Program Membership: BMS, PSPG

Dr. Weiss studies genetic mechanisms behind autism and related disorders. She is tracing how genes interact with factors such as sex and environment and studying how rare genetic diseases can uncover gene-gene interaction. Current work also focused on generating stem cells from patients with known genetic risk factors. These cells can be turned into neurons and glia in order to study their growth, development, and function. Once cellular deficits are revealed, Dr. Weiss investigates how those deficits can be modified or corrected. Her goal is to improve understanding, prevention, and treatment of neurodevelopmental disorders.

John Wiencke, PhD

Professor of Neurological Surgery

Dr. Wiencke’s area of interest is in cytogenetics, radiation biology, and molecular epidemiology. His research has focused on biomarkers of exposure to chemical toxins and tobacco smoke and on genetic susceptibility to environmental exposures. He is the director of the laboratory providing support for epidemiological and clinical studies in neuroepidemiology. His laboratory is currently studying molecular subgroups of glioma and aberrant gene methylation, as well as genetic and environmental determinants of lung cancer.

John Witte, PhD

Professor of Epidemiology and Biostatistics and of Urology
Co-Leader, Program in Cancer Genetics, Helen Diller Cancer Center
Graduate Program Membership: ETS, iPQB, PSPG

Dr. Witte’s research constitutes applied and methodologic genetic epidemiology, with the aim of deciphering the mechanisms underlying complex diseases. His applied work is primarily focused on prostate cancer, while much of his methodologic work is on association studies and hierarchical modeling. Dr. Witte initiated a series of prostate cancer genetic epidemiology studies, which have had numerous successes toward sorting out the genetic basis of this disease. In particular, using a combination of genome-wide scan, allelic imbalance, and association studies, Dr. Witte and colleagues have isolated distinct chromosomal regions that appear to harbor genes that cause prostate cancer.

Margaret Wrensch, PhD

Professor and Lewis Chair in Brain Tumor Research, Department of Neurological Surgery

Dr. Wrensch investigates the genetic and molecular epidemiology of adult brain cancer as principal investigator of the ongoing population based case-control “Adult Glioma Study.”. She also co-leads a project within the UCSF Brain Tumor SPORE.. Her research group was among the first to establish risk loci for glioma and discovered a SNP that confers a six-fold increased risk for certain subtypes of glioma. She also has focused research efforts on the etiology of meningioma, and lung, breast and other cancers.

Chun Jimmie Ye, PhD

Assistant Professor
Department of Epidemiology and Biostatistics
Department of Bioengineering and Therapeutic Sciences
Graduate Program Membership: BMI, BMS