Medicine and Health Sciences Commons^™

The Association Of Polymorphism Rs3736228 Within The Lrp5 Gene With Bone Mineral Density In A Cohort Of Caucasian Young Adults, Mohamed J. H. Al-Amoodi, Whitney Jones, Danny Lee, Steven Mckenzie, Helen C. Miller, Zach Zeller, Seth Stubblefield, Susan Knoblach, Heather Gordish-Dressman, Dustin Hittel, Laura L. Tosi

GW Research Days 2016 - 2020

INTRODUCTION: Osteoporosis is a significant burden for our aging population. Developing a better understanding of the genetic underpinnings of poor bone quality may assist in the future development of prevention strategies. Correa-Rodriguez et al. have identified a group of single nucleotide polymorphisms (SNPs) that were associated with bone mineral density (BMD) in a population of Spanish Caucasians. In particular, they found that SNP rs3736228 in the low-density lipoprotein receptor related protein 5 (LRP5) gene had an influence on BMD. While the role of LRP5 in the Wnt canonical pathway has been fairly well characterized, its association with phenotypic BMD and …

Development Of An Interleukin-4-Inducing Principle From Schistosoma Mansoni Eggs (Ipse)-Specific Pcr Assay As A Quantitative Predictor Of Schistosomiasis-Associated Morbidity, Dannah Farah, Evaristis Mbanefo, Michael H. Hsieh

GW Research Days 2016 - 2020

Schistosomiasis is a neglected tropical disease affecting between 200-500 million people worldwide. The two species causing most human cases of schistosomiasis are Schistosoma mansoni and Schistosoma haematobium. The gold standard for diagnosis is parasitological detection of parasite eggs in stool using the Kato-Katz method. Counting eggs shed in stool is labor-intensive and inaccurate. Interleukin-4- inducing principle from Schistosoma mansoni eggs (IPSE) is the most abundant secreted protein from schistosome eggs. We hypothesized that the mRNA transcripts of the IPSE protein may be found in the liver tissue and stool of experimentally infected animals, and that these transcripts can be specifically …

Differential Mrna Expression In Ectopic Germinal Centers Of Myasthenia Gravis Thymus, Manjistha Sengupta, Bi-Dar Wang, Norman H. Lee, Gary Cutter, Linda L. Kusner, Henry J. Kaminski

GW Research Days 2016 - 2020

Myasthenia gravis (MG) is an autoimmune neuromuscular disorder resulting in weakness of voluntary muscles. It is caused by antibodies directed against proteins present at the post-synaptic surface of neuromuscular junction (NMJ). A characteristic pathology of patients with early onset MG is thymic hyperplasia with ectopic germinal centers (GC). However, mechanisms that trigger and maintain thymic hyperplasia are poorly characterized.

In order to determine the central mechanisms involved in the pathology, thymus samples from MG patients were assessed by histology and grouped based on appearance of GC compared to samples without them. We assessed the differential mRNA expression profiles between the …

Teaching Internal Medicine Residents About Genetics: One Topic At A Time - Breast Cancer, Maria Henry, Andrew Nance, Charles Macri

GW Research Days 2016 - 2020

Background: Currently, the field of medicine is experiencing rapid changes in genetics and genomics information. While medical school curricula all include some genetics education, the content may vary from one school to another, leaving Internal Medicine (IM) residents with different skills and knowledge. In an IM residency where residents come from different medical schools, presenting an organized genetics curriculum may have value. Patients expect their physicians to be knowledgeable and current about their specific disease, including the genetic components and expect that they can inform them about terminology, inheritance, diagnostic testing, risks and benefits of testing. Physicians will need …

Single Nucleotide Polymorphisms In Cldn14 And Smoc1 Affecting Bone Mineral Density Influence Other Musculoskeletal Traits, Christopher Payette, Courtney Sprouse, Cara Goerlich, Heather A. Gordish-Dressman, Thomas Lynch, Heather Flynn, Leticia M. Ryan, Eric P. Hoffman, Monica J. Hubal, Paul D. Thompson, Theodore J. Angelopoulos, Paul M. Gordon, Niall M. Moyna, Linda S. Pescatello, Paul S. Visich, Robert F. Zoeller, Laura L. Tosi

GW Research Days 2016 - 2020

Background: A recent genome-wide association study (GWAS) identified novel genes influencing bone mineral density (BMD). This three stage GWAS identified two novel loci: rs227425 in the SPARC-Related Modular Calcium Binding 1 gene (SMOC1) was significantly associated with BMD and rs170183 in the claudin 14 (CLDN14) gene was significantly associated with BMD in females.

Objective: The purpose of this study was to determine if two novel single nucleotide polymorphisms (SNPs) known to affect BMD are associated with other musculoskeletal traits.

Methods/Design :The Bone Health Cohort consists of 150 African-American participants enrolled at Children’s National Health System as part of …