Video: Every Case Tells a Story| Webinar: ACR/CHEST ILD Guidelines in Practice

An official publication of the ACR and the ARP serving rheumatologists and rheumatology professionals

2015 ACR/ARHP Annual Meeting: Next Generation Sequencing and Disease Mechanisms

  |  Issue: February 2016  |  

Mary Beth Nierengarten is a freelance medical journalist based in St. Paul, Minn.

References

  1. Raychaudhuri S, Lartchouk O, Chin K, et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet. 2011;43(12):1232–1236.
  2. Seddon JM, Yu Y, Miller EC, et al. Rare variants in CFI, C3 and C9 are associated with high risk of advanced aged-related macular degeneration. Nat Genet. 2013;45(11):1366–1370.
  3. Watkin LB, Jessen B, Wiszniewski T, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015;47:654–660.
  4. Tanjore H, Blackwell TS, Lawson WE. Emerging evidence for endoplastic reticulum stress in the pathogenesis of idiopathic pulmonary fibrosis. Am J Physiol Lung Cell Mol Physiol. 2012;302:L721–L729.
  5. Todd DJ, Lee AH, Glimcher LH. The endoplasmic reticulum stress response in immunity and autoimmunity. Nat Rev Immunol. 2008;8:663–674.
  6. Klareskog L, Stolt P, Lundberg K, et al. A new model for an etiology of rheumatoid arthritis: smoking may trigger HLA-DR (shared epitope)-restricted immune reactions to autoantigens modified by citrullination. Arthritis Rheum. 2006;54:38-46.

Related Articles

    Translating Genetic Discoveries into Rheumatic Therapies

    SAN DIEGO—Will rheumatologists soon be able to use data from genetics and genome-wide association studies to more accurately predict disease and develop new therapies for rheumatic diseases? At a Nov. 5 session at the 2017 ACR/ARHP Annual Meeting, experts shared their views on how to glean this useful knowledge from genomics studies. The cost to develop…

    Shortcomings and Promises of Genome-wide Association Studies

    The outcomes of genome-wide association studies (GWAS) have not been what scientists expected, but researchers are developing new approaches to use revelatory GWAS information to identify genetic causal variants, predictors of treatment response, and future opportunities for genetic insight.

    Experts Discuss the Latest Precision Medicine Research

    SAN DIEGO—In just two decades, precision medicine has gone from futuristic concept to realistic toolbox for clinical physicians. At the 2017 ACR Clinical Research Conference on Nov. 3, the Precision Medicine in Rheumatic Diseases: Hopes and Challenges lecture featured rheumatologists and experts on genetics, genomics, pharmaco­genetics and big data who spoke about the latest research…