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 provide insight into pathogenetic mechanisms of this and other fibrotic diseases, leading to novel therapeutic approaches. This study is on track for completion of the largest whole genome sequencing (WGS) project in scleroderma. The samples have been sequenced and are currently been analyzed for genotype/phenotype correlations.

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Document Details

Document Type
Technical Report
Publication Date
Sep 01, 2021
Accession Number
AD1159611

Entities

People

  • Brendan Lee

Organizations

  • Baylor College of Medicine

Tags

DTIC Thesaurus Topics

  • Autoimmune Diseases
  • Biomedical Research
  • Covid-19
  • Data Analysis
  • Department Of Defense
  • Diseases And Disorders
  • Experimental Design
  • Genes
  • Genetic Variation
  • Genetics
  • Genome
  • Institutional Review Board
  • Instructors
  • Maryland
  • Professional Development
  • Research Facilities
  • Technology Transfer

Fields of Study

  • Biology

Readers

  • Immunology and Pathology
  • Molecular Genetics

Technology Areas

  • Biotechnology
  • Biotechnology - Cancer Biotech