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Human Genetics

Photo by Elizabeth Blackburn, PhDThe intellectual exchange between human genetics and biomedical science has produced some of the most important and fruitful scientific discoveries of the past 50 years. The advances in human genetics and genomics made possible by the Human Genome Project and its aftermath have revolutionized the way scientific investigation is carried out in the areas of human disease and its animal models. In addition, the elucidation of the genetic contribution to literally thousands of human diseases has provided innumerable fundamental insights into normal biological function.

Many laboratories at UCSF use genetic approaches to untangle problems as diverse as infertility, cancer, adverse drug reactions, asthma, autism, birth defects, neurological diseases, obesity, diabetes and many others. Our faculty are leaders in the development of cutting-edge genome technologies including microarrays, comparative genome hybridization (CGH), whole-genome sequencing, population genetics, genetic epidemiology and computational genomics. They also use model organisms to discover and explore fundamental pathways that can lead to human disease.

All entering BMS Students take a core Genetics course (BMS 255) and can opt to take a seminar course BMS270 entitled “Disease Discovery through the Lens of Genetics” offered every other spring.  Through the UCSF Institute for Human Genetics (http://humgen.medschool.ucsf.edu/), students can interact with numerous genetic-oriented faculty and attend monthly genetic and genomic technology seminars. The faculty in Genetics participate broadly in the Graduate Education in Medical Science (GEMS) Training Program in which students can choose to focus on research problems direclty relevant to human health. (http://physio.ucsf.edu/GEMS/index.asp).

Participating Faculty
Primary Research Interest: Human GeneticsSecondary Research Interest: Tissue/Organ Biology & EndocrinologyGene regulation and human disease
Primary Research Interest: ImmunologySecondary Research Interest: Human GeneticsThe Genetic Control of Autoimmune Disease
Primary Research Interest: Cancer Biology & Cell SignalingSecondary Research Interest: Human GeneticsMolecular Pathogenesis and Targeted Therapy of Lung Cancer
Primary Research Interest: Human GeneticsSecondary Research Interest: Cancer Biology & Cell SignalingTelomere Synthesis and Function
Primary Research Interest: Human GeneticsSecondary Research Interest: Tissue/Organ Biology & EndocrinologyGenetics approaches to study of the biology of the liver in health and disease
Primary Research Interest: Human GeneticsPharmacogenomics and Genetic Epidemiology of Pulmonary Diseases
Primary Research Interest: Cancer Biology & Cell SignalingSecondary Research Interest: Human GeneticsDNA Repair Mechanisms and Human Disease
Primary Research Interest: Human GeneticsProteasomes, substrate recognition and processing
Primary Research Interest: Cancer Biology & Cell SignalingSecondary Research Interest: Human GeneticsIntegrated genomic and epigenomic mechanisms contributing to cancer
Primary Research Interest: Human GeneticsSecondary Research Interest: ImmunologyGenetics and epidemiology of human autoimmune disease
Primary Research Interest: Virology & Microbial PathogenesisSecondary Research Interest: Human Genetics
Primary Research Interest: Human GeneticsSecondary Research Interest: Vascular & Cardiac BiologyComputational and cellular approaches to metabolic disease
Primary Research Interest: Human GeneticsGenomic approaches to yeast molecular biology and infectious disease
Primary Research Interest: Cancer Biology & Cell SignalingSecondary Research Interest: Human GeneticsGenetics and Genomics of Cancer Progression and Therapeutic Response
Primary Research Interest: Human GeneticsSecondary Research Interest: NeurobiologyHuman genetics in neurodegenerative disease and circadian/sleep behavior
Primary Research Interest: Human GeneticsSecondary Research Interest: Cancer Biology & Cell SignalingPharmacogenomics of Membrane Transporters
Primary Research Interest: Human GeneticsSecondary Research Interest: NeurobiologyHuman Genetics
Primary Research Interest: Human GeneticsSecondary Research Interest: Vascular & Cardiac BiologyGenetic Dissection of Extracellular Matrix in Development and Disease
Primary Research Interest: Virology & Microbial PathogenesisSecondary Research Interest: Human GeneticsRegulation of Gene Expression
Primary Research Interest: Human GeneticsGenetics and Pharmacogenetics of Psychiatric Disorders
Primary Research Interest: Human GeneticsHuman population genomics
Primary Research Interest: Human GeneticsSecondary Research Interest: Tissue/Organ Biology & EndocrinologyGenetic epidemiology of aging- and metabolism-related complex traits in humans
Primary Research Interest: Cancer Biology & Cell SignalingSecondary Research Interest: Human GeneticsCNS Tumor Molecular Biology and Therapeutic Testing
Primary Research Interest: Virology & Microbial PathogenesisSecondary Research Interest: Human GeneticsVirulence and Evolution of a Human Pathogen
Primary Research Interest: Developmental & Stem Cell BiologySecondary Research Interest: Human GeneticsDevelopmental genetics of organ formation and regeneration
Primary Research Interest: Developmental & Stem Cell BiologySecondary Research Interest: Human GeneticsOrganogenesis and patterning during development
Primary Research Interest: Human GeneticsAnalysis of Complex Genetic Traits
Primary Research Interest: Developmental & Stem Cell BiologySecondary Research Interest: Human GeneticsMolecular and cellular mechanisms of primordial germ cell development
Primary Research Interest: Human GeneticsSecondary Research Interest: Developmental & Stem Cell BiologyNoncoding RNAs - the Dark Matter of the Genome
Primary Research Interest: NeurobiologySecondary Research Interest: Human GeneticsMolecular mechanisms that underlie neurodegenerative disorders
Primary Research Interest: Human GeneticsSecondary Research Interest: NeurobiologyGenetic Analysis of Parkinson's disease and other disorders
Primary Research Interest: Human GeneticsSecondary Research Interest: NeurobiologyGenetics and biology of human nervous system disorders
Primary Research Interest: ImmunologySecondary Research Interest: Human GeneticsInherited disorders of lymphocyte development
Primary Research Interest: Human GeneticsHuman Genetics, Population Genetics, Statistical Genetics, Genetic Epidemiology
Primary Research Interest: Virology & Microbial PathogenesisSecondary Research Interest: Human GeneticsMolecular, translational, and clinical studies of malaria
Primary Research Interest: Cancer Biology & Cell SignalingSecondary Research Interest: Human GeneticsDynamics of translation control in gene expression, cancer, and disease
Primary Research Interest: Human GeneticsSecondary Research Interest: ImmunologyPopulation Genetics and Human Genetics of Host Defense, Autoimmune Disease, and Diabetes
Primary Research Interest: Cancer Biology & Cell SignalingSecondary Research Interest: Human GeneticsMolecular Genetics and Therapy of Myeloid Leukemia
Primary Research Interest: Human GeneticsSecondary Research Interest: NeurobiologyThe genetics of autism and epilepsy: studies in cerebral development and connectivity
Primary Research Interest: Human GeneticsSecondary Research Interest: Developmental & Stem Cell BiologyGenomic Determinants in Human Developmental Disorders
Primary Research Interest: Human GeneticsSecondary Research Interest: Cancer Biology & Cell SignalingComputational biology of genetic and epigenetic regulatory networks
Primary Research Interest: Developmental & Stem Cell BiologySecondary Research Interest: Human GeneticsMolecular and Genetic Dissection of Cardiogenesis and Its Role in Human Disease
Primary Research Interest: Human GeneticsSecondary Research Interest: Tissue/Organ Biology & EndocrinologyGenetics of Metabolic Diseases
Primary Research Interest: Cancer Biology & Cell SignalingSecondary Research Interest: Human GeneticsDr. van ‘t Veer is a world renowned Molecular Pathologist, former Head of Diagnostic Oncology at the Netherlands Cancer Institute, and inventor of MammaPrint. She is the P.I. of the Bay Area Breast SPORE and Leader of the Breast Oncology Program in the Helen Diller Family Comprehensive Cancer Center. Dr. van ‘t Veer’s research focuses on Personalized Medicine, to advance that patient management is based on knowledge of the genetic make-up of the tumor as well as the genetic make-up of the patient. This allows to optimally assign systemic therapy for those patients that are in need of such treatment and to ensure the selection of the therapy that is most effective. Dr. van ‘t Veer’s research shows that molecular diagnostics and microarray genomics technology increasingly impacts patient management. Molecular Genomics contributes to the knowledge of who is at risk for breast cancer, how external factors may influence this risk, whether breast tumors are likely to metastasize or not, and which subtype of tumors will likely respond to what therapy.
Primary Research Interest: Human GeneticsEvolutionary and Human Genetics
Primary Research Interest: Human GeneticsSecondary Research Interest: NeurobiologyThe Genetics of Autism
Primary Research Interest: Cancer Biology & Cell SignalingSecondary Research Interest: Human GeneticsMouse models for tumors of the nervous system
Primary Research Interest: Human GeneticsSecondary Research Interest: Cancer Biology & Cell SignalingEtiology and genetics of childhood leukemia and brain cancer
Primary Research Interest: ImmunologySecondary Research Interest: Human GeneticsGenomics of Obstructive Lung Diseases
Primary Research Interest: Human GeneticsSecondary Research Interest: Developmental & Stem Cell BiologyPathogenesis of Human Neurogenetic Diseases
Primary Research Interest: Vascular & Cardiac BiologySecondary Research Interest: Human GeneticsIntegrative Study of Brain Vascular Malformations
Primary Research Interest: Human GeneticsApplication of Population Genetics to the Study of Complex Traits in Humans