Human Genetics
Genomic Discovery and Translation Seminar Series 

Genomic Discovery and Translation Seminar Series 

The Division of Human Genetics at Cincinnati Children’s invites doctors and researchers to the Genomic Discovery and Translation Seminar Series.

Our purpose is to increase knowledge and discussion about the current analytic and quantitative approaches to understanding simple and complex traits in human and model organisms and the clinical impact of genomic discovery. 

This seminar series includes a diverse range of topics including quantitative genomics, biostatistics, bioinformatics, epidemiology, systems and developmental biology, and their application to clinical questions.

  • When: The fourth Friday of each month (typically no seminar in July, August, November and December)
  • Time: Noon
  • Place: Varies

2017

  • Leah Kottyan, PhD, Cincinnati Children’s, “NFkB transcription factors operate across genetic risk loci: RELA in SLE, MS, and IBD”
  • Joel Hirschhorn, MD, PhD, Broad Institute, “From human genetics to biology of height, weight and other polygenic traits”
  • John Hogenesch, PhD, Cincinnati Children’s
  • Michael Snyder, PhD, Stanford, “Using Omics and Big Data to Manage Health and Disease”
  • Beth Kozel, NIH, “Deletion size and genomic second hits as modifiers of disease in Williams-Beuren syndrome”
  • Manoj Pandey, PhD, Cincinnati Children’s, “Looking for new ways to treat lysosomal storage diseases: The role of complement activation in disease pathogenesis”
  • Ying Sun, PhD, Cincinnati Children’s, “New pathways to treatment of genetic brain disorders: a focus on Gaucher disease”
  • Rolf Stottmann, PhD, Cincinnati Children’s, “Gene Discovery in Mammalian Congenital Malformations of the Brain and Face”

2016

  • Artem Barski, PhD, Cincinnati Children’s, “Chromatin Regulation of the Genome”
  • Scott Langevin, PhD, University of Cincinnati, “Exosomal microRNA as Biomarkers of Head and Neck Cancer”
  • Stephan Zuchner, MD, PhD, University of Miami, FL, “Current trends in genomics − a community based, big data perspective”
  • Yueh-Chiang Hu, PhD, Cincinnati Children’s, “CRISPR/Cas technology and its applications in biomedical research”
  • Ardythe Morrow, PhD, Cincinnati Children’s, “The metagenome of preterm infants: Insights into NEC and sepsis”
  • Peng Jim, PhD, Emory, “Dynamic DNA Modifications in Brain and Diseases”
  • Cynthia Morton, PhD, Harvard, “Chromosomal Structural Rearrangements Require Nucleotide Level Precision for Clinical Interpretation”
  • Michael Ombrello, MD, NIH, "Integrated genomic investigations of systemic juvenile idiopathic arthritis"
  • Kejian Zhang, MD, PhD, and Alex Valencia, MD, Cincinnati Children’s, “Whole exome sequencing: Experiences from a Cincinnati Children’s Clinical Lab”

2015

  • Mario Medvedovic, PhD, University of Cincinnati, “Discovering disease drivers and candidate therapeutic agents with LINCS perturbation signatures”
  • Danielle Reed, PhD, Monell Chemical Senses Center, “Bittersweet human genetics”
  • Ken Kaufman, PhD, Cindy Prows, APRN, and Kristen Sund, PhD, Cincinnati Children’s, “Facilitating Genomic Discovery and Collaboration through Whole Exome Sequencing”
  • Andrew Dauber, MD, Cincinnati Children’s, “Exome Analysis for Novel Gene Discovery: A Case-Based Seminar”
  • John Harley, MD, PhD, and Peter White, PhD, Cincinnati Children’s, “Center for Pediatric Genomics at Cincinnati Children's”
  • Lisa Martin, Cincinnati Children’s, PhD, “The Genetics of BAV and HLHS: Lessons Learned from Family Based Studies”
  • Nathan Salomonis, PhD, Cincinnati Children’s, “Bulk and Single Cell RNA-Seq Analysis Simplified in AltAnalyze”
  • Cecilia Lo, PhD, University of Pittsburgh, “Systems genetic approach for interrogating the genetic landscape of congenital heart disease”
  • Marc Williams, MD, Geisinger, “Realizing a Lifetime of Genomically Informed Care”
  • Brian Brooks, MD, PhD, NIH, “Albinism: Can It Become a Treatable Disease?”

2014

  • James Cheverud, PhD, Loyola University of Chicago, “Maternal Genetic and Genomic Imprinting Effects on Offspring Growth, Obesity, and Diabetes”
  • Mary Carrington, PhD, NIH, “Multiple characteristics of HLA class I loci impact human disease”
  • Elizabeth Leslie, PhD, University of Pittsburg, “Pursuing etiologic variants for cleft lip and palate: lessons from GWAS and next-gen sequencing”

2013

  • David Segal, PhD, University of California, Davis, “Engineered hiPSCs as the future of genomics research”
  • Douglas C. Wallace, PhD, Children’s Hospital of Philadelphia, “A Mitochondrial Etiology of Metabolic and Degenerative Diseases, Cancer, and Aging”
  • Patrick Gaffney, MD, Oklahoma Medical Research Foundation, “Genetic and Functional Analyses of TNFAIP3 in Human SLE”
  • Kristine Crews, PharmD, St. Jude Research, “Putting Pharmacogenomics into Practice: Successful Implementation in Pediatrics”
  • Victor Zhang, MD, PhD, Baylor Genetics, “Transition to Next Generation Analysis of the Mitochondrial disorders”

2012

  • Patrick Jay, MD, PhD, Washington University, “Solving Congenital Heart Disease”
  • Dena Davis, PhD, Lehigh University, “Opportunistic/Multiplex Testing as a Threat to Autonomy and Informed Consent”

2011

  • Yun Li, PhD, University of North Carolina at Chapel Hill, “Design and Analysis of Sequencing-Based Studies for Complex Human Traits”
  • Zhongming Zhao, PhD, Vanderbilt University School of Medicine, “Pathway-and Network-based Analysis of Genomie-wide Association Studies and RNA Sequencing Data”
  • Terry St. Elton, PhD, Ohio State University, “Down Syndrome and miRNAs”
  • Howard L. McLeod , PharmD, UNC Institute for Pharmacogenomics and Individualized Therapy, “Using the Genome to Guide Therapy”
  • David Flockhart, PhD, MD, Indiana University School of Medicine, “Clinical Utility for Pharmacogenomics: Barriers and Opportunities”

2010

  • Michael Olivier, PhD, Medical College of Wisconsin, “Integrated Genomic and Proteomic Analysis of Dyslipidemia in Human Obesity”
  • Robert T. Williams, PhD, University of Tennessee Health Science Center, “Systems Genetics of Gene Transcription and Disease Susceptibility: What Genetic Reference Populations and Online Databases Can Do For Your Research Program”

2009

  • Anthony G. Comuzzie, PhD, Obesity Society, “Sequence Enrichment using Droplet-based Microfluidics”

2008

  • Hemant K. Tiwari, PhD, University of Alabama at Birmingham, “Accurate and Flexible Power Calculations on the Spot: Applications to Genomic Research”
  • Carl Langefeld, PhD, Wake Forest School of Medicine, “Genome-wide Association Study in Systemic Lupus Erythematosus: The International Consortium on the Genetics of SLE (SLEGEN)”
  • Veronica Vieland, PhD, Nationwide Children's Hospital and Ohio State University, “And Now For Something Completely Different: How Philosophy of Measurement Can Help Us Find Genes for Autism”
  • Karl Broman, PhD, University of Wisconsin, “Mapping multiple QTL in experimental crosses”
  • Yaron Tomer, MD, University of Cincinnati College of Medicine, “Applying the New Genomic Tools to Dissect the Genetics of Thyroid Autoimmunity”

Contact Us

Contact us.

For more information about the seminar series or suggestions for future speakers, contact Lisa Martin, PhD.

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CME Credit Available

Cincinnati Children’s is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. Cincinnati Children’s designates this live activity for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation.