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Dr. Ancha Baranova is a Professor in the School of Systems Biology and Co-Director for the Chronic Metabolic and Rare Diseases Systems Biology Initiative (ChroMe RaDSBIn) in George Mason University. Dr. Baranova’s lab focuses on the study of pathogenetic pathways contributing to human diseases, particularly, cancers, metabolic syndrome and obesity. Her research has received funding from the NIH, the Susan G. Komen Foundation and private industry. She has reviewed grants for the NSF and other international agencies, and published numerous manuscripts in various academic journals. Dr. Baranova holds a Ph.D. in Virology/Molecular Biology from Moscow State University, and a D.Sci in Genetics from Vavilov Institute of General Genetics, Russian Academy of Science, Moscow
Session 5: RARE DISEASES AND THE ROLE OF SYSTEMS/NETWORK MEDICINE
Session 5: RARE DISEASES AND THE ROLE OF SYSTEMS/NETWORK MEDICINE
DAY 3: September 13, 2019 | Session 5 | 11:15 PM - 11:30 PM
DAY 3: September 13, 2019 | Session 5 | 11:15 PM - 11:30 PM
Longitudinal Profiling of Carriers as a Key to Understanding Human Body Homeostasis
Longitudinal Profiling of Carriers as a Key to Understanding Human Body Homeostasis
Ancha Baranova, PhD, George Mason University, Virginia, USA
Knockout and knockdown animal models which either completely lack gene of interest, or carry a particular mutation in one or both of its copies have been a mainstay of a functional genomics research for decades. Beside of being laborious, these models and their interpretation are subject to serious limitations, including inherent differences of mouse and human biology, as well as the necessity to observe effects of these mutations embed in more or less homogeneous genetic backgrounds. An advent of high-throughput genome analysis finally allowed us to scan individual genomes en masse, extract naturally occurring mutations that inactivate or activate a particular gene then correlated them with detectable phenotypes. In addition to providing direct access to molecular physiology of human bodies and some insight about possible drug targets, this approach opens a window into dissection of slight metabolic changes resulting from carriership rather than a homozygosity for common deleterious variants. While exerting no, or almost no influence on the phenotypes of young individuals, these variant do contribute to health trajectories throughout the process of ageing. We call for community-wide efforts in building the database for genotype-phenotype correlations in human variome, with an emphasis on achieving thorough understanding of incomplete penetrance, haploinsufficiency, and heterozygote advantage in humans. These efforts could not be made without active, longitudinal involvement of the parents of children with autosome-recessive disorders, a stakeholder cohort, which is both greatly enriched in heterozygous variants and keenly interested in advancing understanding of human genetics.
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