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  UPCOMING EVENTS   Selected Seminar        
Date: 6 March 2018
Time: 11:00am | Level 3, IMCB Seminar Room 3-46, Proteos
Speaker: Dr. Cecilia W. Lo
Title: Modeling the genetic landscape of congenital heart disease with mouse forward genetics

Congenital heart disease (CHD) can affect up to 1% of live births.  While a genetic etiology is indicated by increased recurrence risk, sporadic occurrences suggest the genetic etiology of CHD is complex.  Insights into the genetics of CHD has emerged from a large-scale recessive mouse mutagenesis screen using noninvasive fetal ultrasound imaging.  Screening 100,000 fetal mice and mutation recovery using whole mouse exome sequencing identified 100 genes causing a wide spectrum of CHD.  Unexpectedly, more than two thirds of the genes recovered are cilia-related, with many encoding proteins that are direct protein-protein interactors. These findings suggest a central role for cilia in the pathogenesis of CHD. While our screen was focused on recessive mutations, these findings suggest an interactome network may provide the genomic context for driving the complex genetics of CHD. Indeed, analysis of 8 mouse lines from the screen with hypoplastic left heart syndrome (HLHS), a severe CHD, revealed an obligate multigenic etiology. Analysis of one such mouse line revealed a digenic etiology for HLHS, with different aspect of the HLHS phenotype elicited genetically in a combinatorial fashion.  Together these findings show the efficacy of mouse forward genetics for modeling both Mendelian and complex genetics, findings with broad relevance for investigating the genetics of other human diseases.

Dr. Cecilia Lo received her B.S. from Massachusetts Institute of Technology, PhD from Rockefeller University, and postdoctoral training at Harvard Medical School. She began her academic career as assistant professor in the Department of Biology in the University of Pennsylvania and rose through the ranks to become full professor.  In 2001, she relocated to become the Chief of the Laboratory of Developmental Biology and Director of the Genetics and Developmental Biology Center at the National Heart Lung and Blood Institute at the National Institutes of Health.  In 2009, she was appointed the founding chair of a new Department of Developmental Biology at the University of Pittsburgh School of Medicine, where she currently holds the F Sargent Cheever Chair.  Dr. Lo has had a longstanding interest in developmental biology and the genetic etiology of congenital heart disease.  Her laboratory has leveraged their findings in mice to pursue clinical translational studies in patients with congenital heart disease.

Host: A/Prof. Sudipto Roy


Seminar is open to public, registration is not required.


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