Category: Genetics

Single Molecule DNA and RNA Sequencing to Detect Residual Cancer and Clonal Hematopoiesis

Dr. Druley will discuss novel strategies for single molecule DNA and RNA sequencing as a modality for characterization of clonal hematopoiesis and minimal residual disease (MRD) detection in cancer. Despite “deep sequencing,” next-generation platforms have an error rate of 0.5-1.0%, precluding straightforward sequencing for MRD, which requires sensitivity of less than 1:1,000. However, using a […]

Field Trials in Developing Countries: Lessons from the PURE Study

The PURE study assesses environmental, societal, and biological influences on obesity and chronic health conditions such as heart disease, diabetes, and cancer. This presentation will describe the setup and execution of this large and complex study; key findings to date; and the possibilities and pitfalls of field-based data collection in developing countries. Dr. Rahman is […]

Endothelial Function in Relatively Healthy Persons: Studies of the Old Order Amish

Endothelial cells are the first layer response to atherosclerotic risk factors. In clinically healthy individuals with no overt disease, Laser Doppler Flowmetry is used to evaluate endothelial function. This presentation will review endothelial cell response to clopidogrel and clopidogrels activation in the body. Last, we will review genetic determinants of endothelial growth factor angiopoietin-2, a […]

Familial Hypercholesterolemia New Insights New Opportunities

Familial Hypercholesterolemia (FH) is the most common inherited disorder to cause premature morbidity and mortality. It is under-recognized and under-treated. FH provides a genetic model for the cholesterol hypothesis linking cholesterol intake to cardiovascular disease. The discovery of the FH mechanism dramatically improved understanding of lipid metabolism in the body. This talk will examine new […]

Tools for Studying the Genetic Basis of a Complex Disease

Susceptibility to most common diseases is complex, and based on both genetic and environmental risk factors. This presentation will discuss basic concepts and current tools to identify and interpret genetic and epigenetic variation, and pitfalls in associating variants with disease risk. Dr. Barthold is a pediatric urologist/clinician scientist at Nemours. She completed an American Foundation […]

What if We Ignore the Random Effects When Analyzing RNA-seq Data in a Multifactor Experiment?

Identifying differentially expressed (DE) genes between different conditions is one of the main goals of RNA-seq data analysis. Although a large amount of RNA-seq data are produced for two-group comparison with small sample sizes at early stage, more and more RNA-seq data are being produced in the setting of complex experimental designs such as split-plot […]

New Strategies to Identify Genes Linked to Human Birth Defects

This presentation will introduce an integrated approach to identify genes linked to human structural birth defects. Specifically, the application of systems based approaches in combination with animal models to identify the genetic basis of ocular and craniofacial defects will be discussed. Dr. Lachke is an Assistant Professor at the University of Delaware’s Department of Biological […]

Applied Genomics: Next Generation Sequencing in the Clinical Field

Acute myeloid leukemia (AML) is a disease of the genome involving many genetic alterations for disease onset. Using next generation sequencing (NGS) data generated by the NCI TARGET project from pediatric AML patients, we have developed a novel pipeline for detection of SNVs and structural variants with enhanced data integration, visualization, and prioritization scoring to […]