Abstracts tagged "family studies and genetics"

Abstract Number: 673 • 2018 ACR/ARHP Annual Meeting
Chronic Back Pain (CBP) in First Degree Relatives (FDRs) of Patient with Ankylosing Spondylitis (AS): Comparison with the US Population, HLA-B27 Frequency and Persistence of Symptoms over Time
John D. Reveille¹, MinJae Lee², Laura A. Diekman³, Michael Ward⁴, Lianne S. Gensler⁵, Amirali Tahanan², Mohammad H. Rahbar⁶ and Michael Weisman⁷, ¹McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, ²Biostatistics/Epidemiology/Research Design (BERD) Core | Center for Clinical and Translational Sciences, University of Texas-McGovern Medical School, Houston, TX, ³Rheumatology, McGovern Medical School at the University of Texas Health Science Center at Houston, USA, Houston, TX, ⁴National Institutes of Health, Bethesda, MD, USA, Bethesda, MD, ⁵University of California San Francisco, San Francisco, CA, ⁶Biostatistics/Epidemiology/Research Design (BERD) Core | Center for Clinical and Translational Sciences, McGovern Medical School at the University of Texas Health Science Center at Houston, USA, Houston, TX, ⁷Harbor UCLA Medical Center, Los Angeles, CA
Background/Purpose: We examined first degree relatives (FDRs) of patients with ankylosing spondylitis (AS) patients with chronic inflammatory back pain (CIBP), non-inflammatory CBP (NICBP) and no…
Abstract Number: 918 • 2018 ACR/ARHP Annual Meeting
A Novel Familial RELA Truncation Is Associated with Behçet’s-like Mucocutaneous Ulceration Syndrome
Emma Dorris¹, Fahd Adeeb², Eoin Cummins³, Sinisa Savic⁴, Sandy Fraser⁵ and Anthony G. Wilson⁶, ¹UCD Conway Institute,, UCD Centre for Arthritis Research, Dublin 4, Ireland, ²Department of Rheumatology, University of Limerick, LIMERICK, Ireland, ³School of Medicine, Dublin 4, Ireland, ⁴Leeds Institute of Rheumatic and Musculoskeletal Medicine, The University of Leeds, Leeds, United Kingdom, ⁵Rheumatology, Croom Orthopedic Hospital, Ireland, Limerick, Ireland, ⁶UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland
Background/Purpose: Bechet’s disease (BD) is a heterogeneous multifactorial auto-inflammatory condition characterized by recurrent episodes of oral and genital ulceration, uveitis and skin lesions, with less…
Abstract Number: 1960 • 2018 ACR/ARHP Annual Meeting
Exome Sequencing Reveals Rare Recessive Mutations in Multiple Genes Including FAS, RAD51B, and ISG15 in a Single Family with Lupus and Suggests a Unique Genetic Model
Jessie Alperin¹, Khader Mustafa², Ola Hijjawi², Patrick Coit³, Kenneth Kaufman⁴ and Amr H Sawalha³, ¹University of Michigan Medical System, Ann Arbor, MI, ²Division of Rheumatology, The University of Jordan, Amman, Jordan, ³Division of Rheumatology, University of Michigan, Ann Arbor, MI, ⁴Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Lupus is a complex heterogeneous disease, which can affect almost any organ system. The genetic etiology of lupus is complex, with multiple genetic susceptibility…

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].