Current Insights in Genetics of Sarcoidosis Diagnosis

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 510

Special Issue Editor


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Guest Editor
Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden
Interests: meta-analysis; complex diseases; autoimmune diseases; genetics, epigenetics; immunogenetics; gene expression, single-cell transcriptomics; molecular medicine; biomarker discovery; molecular mechanisms of disease; personalized medicine
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Special Issue Information

Dear Colleagues,

Sarcoidosis is a complex multisystem disease, characterized by noncaseating granulomas in the affected organ. The etiology and pathogenesis of the disease are unknown. However, research investigations in the last decade showed that sarcoidosis is related to genetic susceptibility, environmental factors, and abnormalities in the immune system. The diagnosis of sarcoidosis is determined by clinical and radiologic features, biopsy findings of non-caseating granulomas, differential counts of inflammatory cell infiltrates, and the exclusion of other granulomas disease.

With the advent of high-throughput technologies and the lowering cost of SNP-array and next-generation sequencing (NGS), recent discoveries have been made to understand the genetic architecture of sarcoidosis and elucidate the molecular mechanisms underlying its immuno-pathobiology.

This Research Topic aims to collect articles highlighting the utility of SNP arrays and high-throughput NGS to facilitate the diagnosis of sarcoidosis and target-organ characterization. We are interested in collecting original articles and reviews describing the potential of genetics, especially its application in diagnosis and disease phenotype characterization.

Dr. Natalia Rivera
Guest Editor

Manuscript Submission Information

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Keywords

  • sarcoidosis cohort study for genetic studies
  • application of genetics for diagnosis of sarcoidosis
  • pathways involved in sarcoidosis pathogenesis
  • establishment and application of sarcoidosis diagnostic model
  • the role of genetic markers in the diagnosis and prognosis of sarcoidosis
  • application of pharmacogenetics or pharmacogenomics in sarcoidosis

Published Papers

There is no accepted submissions to this special issue at this moment.
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