1 / 27

Genetics of Rheumatoid Arthritis in some Arab States

Genetics of Rheumatoid Arthritis in some Arab States. Thurayya Arayssi M.D Weill Cornell Medical College-Qatar May 2012. Welcome. Objectives of the Meeting. To review study d esign To discuss s tudy details To familiarize investigators with study procedure

garran
Download Presentation

Genetics of Rheumatoid Arthritis in some Arab States

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Genetics of Rheumatoid Arthritis in some Arab States ThurayyaArayssi M.D Weill Cornell Medical College-Qatar May 2012

  2. Welcome

  3. Objectives of the Meeting • To review study design • To discuss study details • To familiarize investigators with study procedure • To assess the needs of the collaborating centers for a successful study

  4. Aims of the Study • Enroll and Collect DNA on at least 2000 RA cases and 2000 controls • Assess for the defined RA risk alleles by genotyping a subset of 500 seropositive cases and 500 controls • Sequence the whole exome in a large consanguineous family to discover inherited recessive protein coding mutations that cause RA.

  5. Figure 2: Common alleles associated with risk of RA. Timeline of discovery of common alleles from candidate gene and genome-wide studies. These RA risk alleles have not yet been tested among individuals of Arab ancestry. Common Alleles Associated with RA Risk

  6. NEJM, 365;23nejm.orgdecember 8, 2011

  7. Studies from the Middle East • Largest study by Dr. Kazkaz: • A dose effect was observed between the SE copy number and • risk of RA (OR 1 vs 0 copies = 1.6; OR 2 vs 0 = 15.3) • radiographic joint destruction (OR 1 vs 0 = 2.2; OR 2 vs 0 = 9.9)

  8. Our study • Genome Wide Association Study (GWAS) that will test for >30 identified risk alleles identified in European and North American populations

  9. Patients Inclusion Criteria • Self reported Arab ancestry • Age > 18 • RA diagnosed per the ACR criteria • Ability to provide informed consent • Otherwise no exclusion criteria Case log

  10. ControlsInclusion Criteria • Self reported Arab Ancestry • Absence of an underlying autoimmune disorder • Able to provide an informed consent • 1:1 matching for age ( 10 year range), gender and reported ancestry Control log

  11. Projected number of patients/center We are committed to 1000 patients and 1000 controls in the first year

  12. Data collection( 10-15 minutes) • Clinical Data • Demographic and clinical data questionnaire • Ancestry questionnaire • All data entry will be electronic via survey gizmo Demographic Questionnaire Ethnicity Questionnaire

  13. Blood Collection(30 Minutes) • Blood collection kits pre-labeled shipped to center according to a preset schedule • 10 cc of blood to be collected in EDTA tubes • Tube to be inverted 8-10 times • Blood to be transferred to cryovials, precoded • Blood to be frozen immediately at -80 C Shipment form Blood collection form

  14. Shipment • Samples will then be shipped, on dry-ice, according to a preset timeline, to WCMC-Q for DNA extraction Shipment lecture

  15. Documentation • Linking patients to samples • Anonymization • Recruitment strategy

  16. WORKFLOW Patient refuses to sign ICF Patient d/c • Use paper format • Lable with provided lables • Send electronically within 24 hours Technical problems Document in log sheet Patient refuses blood draw Log sheet sent monthly basis

  17. Study Timeline 1000 patients 1000 patients Sequencing Analysis

  18. Questions

  19. Genetics of Rheumatoid Arthritis in some Arab States ThurayyaArayssi M.D Weill Cornell Medical College-Qatar May 2012

  20. What is Next?

  21. September 1 2012 First Patient to be recruited

  22. June-September 2012 • Testing the system • Use suvery Gizmo to trouble shoot • Assess your site for readiness • Identify responsibilities ( Responsibility log to be sent) • -80 Freezer, racks, back up electricity and space availability • Pipettes • Shipping agency and the requirements for shipping blood outside the country • Recruitment plan

  23. June-September 2012June and July • SOP will be sent to each Center to standardize and facilitate the work • Weekly Skype calls in June to trouble shoot according to a preset schedule • Monthly Skype calls thereafter or as requested by each center

  24. June-September 2012August • Mid August- • Reminder documents, webcasts sent to centers • Skype calls for each Center to finalize needs prior to “first patient in”

  25. Communication Plans • Monthly Skype Calls • Quarterly Newsletter • Update on recruitment • Trouble shooting • Emerging issues to all centers • Meeting preset at the ACR and ? EULAR

  26. Future Plans • Searching for families with multiple members with RA • Metabolomics

  27. THANK YOU

More Related