David Geffen School of Medicine at UCLA
Department of Human Genetics

Speaker Series - Spring Quarter 2015

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

Mon, Apr 06
The complex and cascading impact of regulatory variation
Alexis Battle, PhD, Assistant Professor, Department of Computer Science, Johns Hopkins University
Contact & Intro: Pajukanta, Paivi, x72011
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ABSTRACT: Regulatory genetic variation is believed to play a significant role in human disease, but while we have identified thousands of variants affecting mRNA levels, we do not yet fully understand their downstream consequences or the factors that modulate their impact. In recent work, we have analyzed the consequences of regulatory variation on steady-state protein levels, revealing a broad pattern of attenuation, where RNA-associated variants have reduced effects on protein levels. Additionally, we are now considering the broader context of regulatory variation including gene networks and environmental modulation.

Mon, Apr 20
Next Generation Mendelian Genetics and Beyond
Debbie Nickerson, PhD, Professor, University of Washington Genome Sciences
Contact & Intro: Leonid Kruglyak, x63716
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ABSTRACT: The application of massively parallel sequencing is rapidly providing new insights into the genetic basis of both rare and common human diseases. I will highlight findings from the analysis of rare Mendelian conditions from the Centers for Mendelian Genomics, where new genes are being uncovered at an unprecedented pace. Beyond Mendelian genetics, the application of next generation sequencing in the clinic is also bringing new findings to patients and is highlighting the need for a more complete catalog of the medical genome.

Mon, Apr 27
LOCATION: Neuroscience Research Building (NRB) Auditorium, Room 132
Diabetes – Genes, Personalized Medicine and Fruit Flies
Graeme I. Bell, PhD, Louis Block Distinguished Service Professor in Medicine and Human Genetics, The University of Chicago
Contact & Intro: Jake Lusis, x51359
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ABSTRACT: Dr. Bell will review the genetics of diabetes mellitus and the use of genetics for diagnosis and treatment. He will also describe recent studies using Drosophila to understand the effects of expressing a mutant proinsulin protein to identify genes and pathways that modify the toxic effects of misfolded proteins and identify new therapeutic targets for the treatment of diabetes in man.

Mon, May 11
Integrative Genomic Studies of Adaptive Traits in Africa
Sarah Tishkoff, Ph.D., David and Lyn Silfen University Professor, Departments of Genetics and Biology, University of Pennsylvania
Contact & Intro: Pajukanta, Paivi, x72011
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ABSTRACT: Africa is thought to be the ancestral homeland of all modern human populations. It is also a region of tremendous cultural, linguistic, climatic, and genetic diversity. Despite the important role that African populations have played in human history, they remain one of the most underrepresented groups in human genomics studies. A comprehensive knowledge of patterns of variation in African genomes is critical for a deeper understanding of human genomic diversity, the identification of functionally important genetic variation, the genetic basis of adaptation to diverse environments and diets, and the origins of modern humans. Furthermore, a deeper understanding of African genomic variation will provide the necessary foundation for powerful and efficient genome-wide association and systems biology studies to identify coding and regulatory variants that play a role in phenotypic variation including disease susceptibility. We have used whole genome SNP genotyping, high coverage genomic and transcriptomic sequencing analyses to characterize patterns of genomic variation, ancestry, and local adaptation across ethnically and geographically diverse African populations. We have identified candidate loci that play a role in adaptation to infectious disease, diet and high altitude, as well as the short stature trait in African Pygmies. Additionally, our studies shed light on human evolutionary history and African population history.

Mon, Jun 01
LOCATION: Center for Health Sciences (CHS) 13-105
An operational view of mammalian signaling and memory circuits
Michael Elowitz, PhD, Investigator, Howard Hughes Medical Institutes; Professor, Biology and Biological Engineering, California Institute of Technology
Contact & Intro: Leonid Kruglyak, x63716
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ABSTRACT: Cells use circuits of interacting genes and proteins to control their behaviors, but the design principles that govern genetic circuit architecture usually remain mysterious. Our lab seeks to identify and understand such design principles by constructing or re-wiring minimal versions of key pathways in living cells, and studying their behavior quantitatively and dynamically at the single-cell level. In this talk, I will discuss new work on mammalian signaling pathways and epigenetic memory systems. This work reveals unexpected principles underlying these systems and shows how higher-level representations can provide simple and predictive views of complex molecular pathways.

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