Accession Number:

AD1159611

Title:

Rare Variants in Systemic Sclerosis

Descriptive Note:

[Technical Report, Annual Report]

Corporate Author:

BAYLOR COLL OF MEDICINE HOUSTON TX

Personal Author(s):

Report Date:

2021-09-01

Pagination or Media Count:

13

Abstract:

Systemic Sclerosis SSc, scleroderma has considerable morbidity and the highest mortality of all the systemic autoimmune diseases. The causes of SSc isare 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 genotypephenotype correlations.

Descriptors:

Subject Categories:

  • Medicine and Medical Research
  • Genetic Engineering and Molecular Biology

Distribution Statement:

[A, Approved For Public Release]