David Geffen School of Medicine at UCLA
Department of Human Genetics

Speaker Series - Fall Quarter 2014

Mondays, 11am - 12pm, Gonda Building First Floor Conference Room, 1357

Mon, Oct 06
Genetics and genomics of color patterns: model systems in a post-genome world
Greg Barsh, MD, PhD, Investigator, HudsonAlpha Institute; Professor of Genetics, Stanford University
Contact & Intro: Esteban Dell'Angelica, x63749
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ABSTRACT: A twentieth century perspective of mammalian gene action and interaction draws heavily on the utility of mouse coat color mutations as a model system. But the availability of mammalian genome sequences together with the advent of massively parallel sequencing offers the opportunity to study color variation in “non-model” organisms, probing basic questions in developmental biology and evolution that are not represented in laboratory mice. I will present our progress on stochastic patterns such as brindling and tortoiseshell, and periodic patterns such as cheetah spots and zebra stripes.

Mon, Oct 27
The 3D Genome in Transcription
Bing Ren, PhD; Member - Ludwig Institute for Cancer Research; Professor - Department of Cellular and Molecular Medicine; UCSD School of Medicine
Contact & Intro: Jessica Li, x68375
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ABSTRACT: Inside the nucleus, the genome is organized in three-dimensional (3D) space, and lineage-specific transcriptional programs that direct stem cell fate are implemented in this native 3D context. I will present recent findings related to 3D genome organization in mammalian cells, with a particular focus on how different levels of organization contribute to lineage-specific transcriptional regulation. I will describe higher-order organizational features that are observed at the level of both the whole chromosome and individual loci. I will highlight changes in genome organization that occur during the course of differentiation, and discuss the functional relationship between chromatin architecture and gene regulation. Taken together, mounting evidence now shows that the genome organization plays an essential role in orchestrating the lineage-specific gene expression programs during development.

Mon, Nov 10
Genetic Analyses of Vitiligo and Facial Shape: A Tale of Two Complexities
Richard A. Spritz, MD, Professor and Director, Human Medical Genetics and Genomics Program, University of Colorado School of Medicine
Contact & Intro: Esteban Dell'Angelica, x63749
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ABSTRACT: The autoimmune disease vitiligo and the normal trait facial shape represent two extremes of human complex traits. The first is a dichotomous disease trait, and the second is a universal set of interconnected quasi-continuous traits. Both have been approached by genomewide association studies that have begun to yield understanding of their underlying biology.

Mon, Nov 24
A Resource for Genetic Epidemiology Research on Adult Health and Aging
Neil Risch, PhD, Director, Institute for Human Genetics; Lamond Family Foundation Distinguished Professor in Human Genetics; Professor, Epidemiology and Biostatistics UCSF; Co-Director, Research Program on Genes, Environment and Health Adjunct; Investigator Kaiser Permanente Northern California
Contact & Intro: Nelson Freimer, x49571
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ABSTRACT: Over the past decade, we have developed the Research Program on Genes, Environment, and Health (RPGEH), a large, population-based resource for genetic epidemiologic research based within the Kaiser Permanente Northern California (KPNC) membership of 3.3 million. The objective of the RPGEH is to facilitate research on determinants of disease and treatment response by linking information from comprehensive electronic medical records, genomic data from biospecimens, and environmental exposure data from surveys and geographic information system (GIS) databases on 500,000 broadly consented KP members. Over 430,000 adults have completed a survey that ascertained health-related behaviors and other risk factors. To date, we have obtained approximately 200,000 biospecimens (primarily saliva) from RPGEH survey participants. In 2009, in collaboration with UCSF, we received a Grand Opportunity award from the NIH to perform genome-wide genotyping and telomere length analysis of 100,000 RPGEH participants, to create a Resource for Genetic Epidemiology Research on Adult Health an Aging (GERA). The sample is approximately 20% minority and 80% white, with an average age of 65 years, and average length of membership over 23 years. A unique feature of this resource is the comprehensive and longitudinal clinical, laboratory, radiology, pharmacy and other health data on all participants, beginning in 1995 and continuously updated as the cohort ages. GIS databases are available to map participants to environmental data such as air pollution and pesticide exposures, as well as the built environment. To date, through genome-wide association analysis, we have identified approximately 600 genetic variants (200 novel) associated with a variety of diseases and traits, including telomere length, and also the association of short telomere length with mortality in a prospective analysis. Because a sizeable proportion (14%) are age 80 years and older, this cohort also provides unique opportunities to understand the factors underlying age-related disease and the processes of aging.

Mon, Dec 08
LOCATION: Neuroscience Research Building (NRB) Auditorium, Room 132
Genetics of Complex Traits in the Domestic Dog
Elaine Ostrander, PhD, Chief, Cancer Genetics and Comparative Genomics Branch; Head, Comparative Genetics Section; Cancer Genetics & Comparative Genomics Branch National Human Genome Research Institute (NHGRI) National Institutes of Health (NIH)
Contact & Intro: Leonid Kruglyak, x63716
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ABSTRACT: Dr. Elaine Ostrander is Chief of the Cancer Genetics and Comparative Genomics Branch at the National Human Genome Research Institute of NIH. She also heads the Section of Comparative Genetics. Dr. Ostrander received her Ph.D. from the Oregon Health Sciences University, and did her postdoctoral training at Harvard. She then went to UC Berkeley and the Lawrence Berkeley National Labs, where, with collaborators, she began the canine genome project, and built the canine linkage and radiation hybrid maps. She was at the Fred Hutchinson Cancer Research Center and University of Washington for 12 years, rising to the rank of Member in the Human Biology and Clinical Research Divisions, and Head of the Genetics Program. She moved to NIH in 2004.

Dr. Ostrander’s lab at NIH works in both human and canine genetics. Her group focuses on the genetics of complex diseases traits including diseases such as cancer, in both dogs and humans, and the genetics of canine morphologic features such as body size, leg length and skull shape. Dr. Ostrander has published over 285 papers and articles, and is currently leading a team of postdocs and students on projects aimed at the mapping of several canine disease genes, finding genes regulating canine body size, skull shape and leg position, and understanding the population dynamics of modern domestic breeds. She also heads a team working to find genes that increase men’s susceptibility to prostate cancer, particularly aggressive forms of the disease. She has won multiple awards including the American Cancer Society Junior Faculty Award, Burroughs Welcome Award for Functional Genomics, Asa Mays Award, Lifetime Achievement Awards for both her prostate cancer and her canine genetics work, and in 2013 won the Genetic Society of America Medal.

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