Rare Variants in Systemic Sclerosis

Abstract

Systemic Sclerosis (SSc, scleroderma) has considerable morbidity and the highest mortality of all the systemic autoimmune diseases. The cause(s) of SSc is/are unknown and it is generally considered to result from a combination of external triggers operating in the context of genetic susceptibility, similar to other complex genetic autoimmune diseases. The genetic component has been estimated to contribute 30% to the risk of developing SSc. The overall goal of this project is to identify rare genetic variants, that increase susceptibility to SSc and that influence clinical outcomes. Metabolic pathways influenced by these variants will probide insight into pathogenetic mechanisms of this and other fribrotic diseases, leading to novel therapeutic approaches.

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Document Details

Document Type
Technical Report
Publication Date
Sep 01, 2019
Accession Number
AD1106976

Entities

People

  • Brendan Lee

Organizations

  • Baylor College of Medicine

Tags

DTIC Thesaurus Topics

  • Autoimmune Diseases
  • Biomedical Research
  • Data Analysis
  • Department Of Defense
  • Diseases And Disorders
  • Electronic Mail
  • Experimental Design
  • Genetic Variation
  • Genetics
  • Genome
  • Institutional Review Board
  • Professional Development
  • Quality Control
  • Technology Transfer
  • Training
  • Universities
  • Vascular Diseases

Fields of Study

  • Medicine

Readers

  • Immunology and Pathology
  • Molecular and genetic basis of cancer.

Technology Areas

  • Biotechnology
  • Biotechnology - Cancer Biotech