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EVENT DETAILS |
Talk Title: The last straw did not break the camels back: interpreting genomic variation to inform pathogenesis pathways.
Abstract: Every person is genetically predisposed to number of disorders that could significantly affect their span or quality of life.For instance, one in four adults in the United States is diagnosable with a mental illness in any given year.Autoimmune disorders affect one in ten people.Despite all research efforts, however, genetic causes of these and other complex diseases remain elusive.This is largely due to the inherent complexity of pathogenesis pathways and the interaction of individual genomic determinants with the environment.With the advent of genomic sequencing, the number of studies designed to search for disease-causing genes and variants has grown exponentially.Most of these approaches look for common patterns in genomic variation of affected individuals, which is absent in healthy controls.However, finding the often-missing heritability requires further establishing the patterns of molecular function disruption, without attributing disease to a specific (small) set of variants or genes.
We find that at least a fifth of the exonic non-synonymous variants in genomes of healthy individuals alter the molecular functions of the genes that they affect.The fact that we remain healthy in spite of these changes is evidence of our species robustness in a certain range of biochemical functionality.In individuals affected by complex diseases, the specific functional backgrounds contribute to pathogenicity mechanisms.Distinguishing between the combinatorial loads of the functionally non-neutral variants in relevant pathways of disease-affected and healthy individuals contributes to our understanding of the genetic mechanisms of complex disease.Our labs novel computational methods leverage functional effects of genome variants in disorder-specific genes to predict individual disease susceptibility.We develop and test our methods using the genetic and clinical data from patients affected by a range of complex disorders, such as Crohns disease, COPD, and Tourette disorder.Our work motivates new experimentally testable hypothesis regarding the biological mechanisms of these diseases and may eventually provide a means for earlier prognosis, more accurate diagnosis and the development of better treatments.
Biography: Dr. Yana Bromberg is an assistant professor at the Department of Biochemistry and Microbiology, Rutgers University.She holds an adjunct assistant professor position at the Department of Genetics at Rutgers and is the Chief Scientific Officer at BioSof a company for bioinformatics tool development.She is also a fellow at the Institute of Advanced Studies in the Technical University of Munich.
Dr. Bromberg received her Bachelor degrees in Biology and Computer Sciences from the State University of New York at Stony Brook and a Ph.D. in Biomedical Informatics from Columbia University, New York.She is known for her seminal work on a method for screening for non-acceptable polymorphisms, or SNAP for short, which evaluates the effects of single amino acid substitutions on protein function. Currently, her research is focused on the analysis of human variomes for disease predisposition, functional annotation of microbiomes, and the study of evolution of lifes electron transfer reactions.Dr. Bromberg is a member of the Board of Directors of the International Society for Computational Biology and actively participates in organizing the ISMB/ECCB conferences (ISMB stands for Intelligent Systems for Molecular Biology, and ECCB is it's European equivalent).She chairs poster and talk sessions, conducts workshops, and organizes a special interest group aimed at the study of genomic variation VarI-SIG.
Dr. Bromberg's work has been recognized by several awards, including the Hans-Fischer award for outstanding early career scientists and recognition for the top performance in the Critical Assessment of Genome Interpretation experiment. Dr. Bromberg also serves as an editor and a reviewer of several top bioinformatics journals, including BMC Genomics and PLoS Computational Biology. To date, she has authored or co-authored 34 peer reviewed scientific articles and has been invited to give more than 61 talks.
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