Rosemary Akhurst, PhD
Professor of Anatomy
Cancer Research Institute and UCSF Comprehensive Cancer Center
Graduate Program Membership: BMS, DSCB
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.
Brian Black, PhD
Professor of Biochemistry
Investigator, Cardiovascular Research Institute
Graduate Program Membership: BMS, DSCB, Tetrad
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.
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.
Rahul Deo, MD, PhD
Assistant Professor of Medicine, Cardiovascular Research Institute
Graduate Program Membership: BMS
Dr. Deo studies how genetic variation contributes to the pathogenesis of cardiovascular and metabolic disease, especially disorders of lipid metabolism and diseases of cardiac muscle (cardiomyopathies). Genetic variants may influence disease predisposition by altering the molecular responses to cellular stimuli, such as circulating lipoproteins, hormones, or fatty acids. To address this hypothesis, he employs machine learning to prioritize likely causal genes from deep sequencing data from family studies; examines epigenetic determinants of mature metabolic cellular phenotypes; deciphers the mechanistic basis for the influence of variation on gene expression; and develops network models to explain the molecular consequences of cellular perturbagens.
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.
Doug Gould, PhD
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.
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.
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.
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.
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.
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.
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.