David Geffen School of Medicine at UCLA
Department of Human Genetics

Speaker Series - Winter Quarter 2015

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

Mon, Jan 12
Autism: New Mutations, Genes and Genetic Subtypes
Evan Eichler, PhD, Professor, Department of Genome Sciences; Investigator, Howard Hughes Medical Institute University of Washington
Contact & Intro: Leonid Kruglyak, x63716
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ABSTRACT: The talk will summarize our understanding of the role of copy number variation and de novo mutation in contributing to autism risk based on exome sequencing of >2000 families. Despite the locus heterogeneity, novel high-impact genes are being discovered corresponding to distinct phenotypic subtypes of the disease.

Mon, Jan 26
Population Genetics, Biostatistics and Bioinformatics Issues in Individualized Medicine
Nicholas J. Schork, PhD, Director of Human Biology, J. Craig Venter Institute and Adjunct Professor of Psychiatry and Biostatistics, University of California, San Diego
Contact & Intro: Rita Cantor, x72440
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ABSTRACT: There is a great deal of attention surrounding 'individualized,' 'personalized,' and/or 'precision' medicine. Much of this attention has been motivated by technological advances in genetic and related molecular assays that have provided researchers with an unprecedented ability to identify and characterize the potentially unique determinants of an individual's disease susceptibility. However, as promising as these technologies are, their routine use in clinical settings will be hampered until they are appropriately vetted. In this talk, a number of studies are described that consider the use of genomic profiling to further efforts in individualized medicine. Focus is on the very thorny issues these studies have been designed to address, including dealing with patient genetic background heterogeneity, matching drugs to tumor genomic profiles in real-time clinical trial settings, exploring the utility of therapeutic interventions thought to be appropriate for an individual patient based on genomic profiling and monitoring genetically susceptible individuals. There is no doubt that individualized medicine will have a positive impact on health care, but only after some of the challenges it brings have been exposed and dealt with appropriately.

Mon, Feb 09
LOCATION: Neuroscience Research Building (NRB) Auditorium, Room 132
Next Generation Cancer Genomics
Elane Mardis, PhD, Robert E. and Louise F. Dunn Distinguished Professor of Medicine; Co-director, The Genome Institute at Washington University; Washington University School of Medicine
Contact & Intro: Nelson Freimer, x49571
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ABSTRACT: Next generation sequencing technology has fundamentally transformed our ability to study the cancer genome. My lecture will focus on the historical developments in next-generation cancer genomics, featuring several vignettes from our recent work to illustrate its impact. Studies of acquired resistance to targeted therapy, personalized vaccine development and "n of 1" cases will be described.

Mon, Feb 23
LOCATION: Center for Health Sciences (CHS) 13-105
Resolving the genetics of neurodegenerative disease and taking the next steps to understanding etiology
Andrew Singleton, PhD, Chief, Molecular Genetics Section and Laboratory of Neurogenetics, National Institute on Aging, NIH
Contact & Intro: Daniel Geschwind, x66814
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ABSTRACT: The talk will discuss the work in my laboratory in deciphering the genetic basis of neurodegenerative diseases. In addition, I will cover our work that aims to understand the biological consequences of disease linked variation.

Mon, Mar 02
Diamonds in the dirt: biological insights from large-scale genetic data for type 2 diabetes
Mark McCarthy, Robert Turner Professor of Diabetic Medicine Oxford Centre for Diabetes, Endocrinology & Metabolism, and the Wellcome Trust Centre for Human Genetics, University of Oxford, UK
Contact & Intro: Leonid Kruglyak, x63716
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ABSTRACT: Recent efforts to generate and to aggregate large scale human genetics data for type 2 diabetes have revealed over 100 genomic regions robustly associated with type 2 diabetes. These data have been useful in terms of defining the genetic and phenotypic architecture of the disease, but mechanistic insights have been limited. I will describe our efforts to integrate multiple data types (genetic, genomic, cellular) to deliver insights into the biological basis of metabolic disease which will underpin future translational advances.

Mon, Mar 09
Population and personalized genomics: from association and function to interpretation
Manolis Dermitzakis, Louis-Jeantet Professor, Department of Genetic Medicine and Development, University of Geneva Medical School
Contact & Intro: Nelson Freimer, x49571
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ABSTRACT: Molecular phenotypes inform about genetic and environmental effects on cellular state. The elucidation of the genetics of gene expression and other cellular phenotypes are highly informative of the impact of genetic variants in the cell and the subsequent consequences in the organism. In this talk I will discuss recent advances in key areas of the analysis of the genomics of gene expression and cellular phenotypes in human populations and multiple tissues and how this assists in the interpretation of regulatory networks and human disease variants.

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