Nadav Ahituv, PhD

Associate Professor of Bioengineering and Therapeutic Sciences
Graduate Program Membership:  BMIBMSDSCB, PSPG

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Nadav Ahituv, PhD
Dr. Ahituv’s research focuses on understanding the role of regulatory sequences in human biology and disease. Through a combination of comparative genomic strategies, regulatory element analysis, human patient samples, and mouse and fish genetic engineering technologies, he is working to elucidate mechanisms whereby genetic variation within these sequences lead to changes in human phenotypes. The research focuses on three clinically relevant phenotypic categories: monogenic disease, using limb malformations as a model; complex disease, analyzing how nucleotide changes in regulatory sequences contribute to obesity; and pharmacogenomics, characterizing how genetic differences in regulatory sequences lead to clinical variation in response to drugs.

Brian Black, PhD

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

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Brian Black, PhD
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.

Jeffrey Bush, PhD

Assistant Professor of Cell and Tissue Biology
Graduate Program Membership:  BMSDSCBOCS

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Jeff Bush, PhD
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.

Doug Gould, PhD

Associate Professor of Ophthalmology and Anatomy
Graduate Program Memberships:  BMS, Tetrad

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Doug Gould, PhD
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

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Su Guo, PhD
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.

Edward Hsiao, MD, PhD

Associate Professor of Medicine
Graduate Program Membership:  BMSOCS

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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.

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:  BMSDSCB, OCSPSPG
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Ophir Klein, MD, PhD
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.

Yun-Fai Chris Lau, PhD

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

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Yun-Fai Chris Lau, PhD
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.

Jeremy Reiter, MD, PhD

Professor of Biochemistry and Biophysics
Graduate Program Membership:  BMSDSCB, Tetrad

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Jeremy Reiter, MD, PhD
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.

Licia Selleri, MD, PhD

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

UCSF Faculty Profile

Licia Selleri, MD, PhD
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.

Joseph T.C. Shieh, MD, PhD

Associate Professor of Pediatrics
Graduate Program Membership: BMS

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Joseph Shieh, MD, PhD
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.

Anne Slavotinek, MD, PhD

Professor of Clinical Pediatrics

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Anne Slavonitek, MD, PhD
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

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Deepak Srivastava, MD
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.