Donated Tissue Samples, Essential for RA Research

  • Think you can’t donate your tissue since you have rheumatoid arthritis?  Think again.  Researchers want your tissue and blood samples in order to conduct a variety of research projects.

    The Robert S. Boas Center for Genomics & Human Genetics, as part of the Feinstein Institute for Medical Research in New York, is examining patterns in the human genome to find specific genetic risks for diseases such as rheumatoid arthritis or lupus to Alzheimer’s disease and schizophrenia. 

    Established in 1997 by a group of rheumatologists and researchers from across the country, the North American Rheumatoid Arthritis Consortium (NARAC) has identified several major risk genes for RA.  NARAC is led by Feinstein Institute researcher, Peter K. Gregersen, MD, who identified the two polymorphisms associated with RA and lupus - PTPN22 and STAT4 - years ago. 

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    Although there is still much to know about genetic risk factors rheumatoid arthritis and other diseases, companies such as deCODEme will take your submitted DNA sample and test your chromosomes for risk genes known to be related to 47 diseases and health conditions...for a fee, of course, $1100.  23andMe will analyze your DNA sample for as low as $207.

    According to deCODEme, genetic variants which are known to increase the risk of developing RA include: “a variant in or near the HLA-DRB1 gene on chromosome 6p, the PTPN22 gene on chromosome 1, the STAT4 gene on chromosome 2, the IL23 gene on chromosome 4, the TRAF1-C5 gene on chromosome 9, the OLIG3-TNFAIP3 gene region on chromosome 6q and in the PADI4 gene on chromosome 1. Of these the HLA-DRB gene contributes by far the strongest effect to the risk of developing Rheumatoid arthritis. The PADI4 gene contributes to the risk of RA in East Asians but not people of European descent.”

    Pércio S. Gulko, MD, is examining genes that effect the susceptibility of RA and severity of its symptoms with the anticipation of developing “more effective therapies, as well as new tools for diagnosis and prognostication.”  His team of researchers are able to do this work through a variety of “strategies involving genetic analysis, functional studies of inflammatory cells, and gene expression studies of the joint cells (synovial fibroblasts).”

    Here is where the average RA patient can participate.  If you are scheduled to undergo orthopedic surgery, you can choose to contribute to the Tissue Donation Program - Synovial Tissue Collection study led by Dr. Gulko.  The purpose of the study is two-fold: 1) to collect synovial tissue and blood to study the genetic and environmental factors involved in the development and severity of arthritis, and 2) to save or “bank” unused portions of the synovial tissue and blood for future studies.  Currently, the Feinstein Institute is conducting at least seven clinical studies related to rheumatoid arthritis.

    Synovial tissue often obtained during orthopedic surgery or through a needle biopsy has been a source of research material for decades. Often tissue samples are taken from the knee joint, but which method provides better samples?  Researchers found that most microscopic features of inflammation were similar regardless of collection method. (Bresnihan et al. Synovial biopsy in arthritis research: five years of concerted European collaboration (pdf). Ann Rheum Dis 2000;59:506-510.)

  • There are companies such as Asterand which provide “access to human tissue through its global network of collaborating donor institutions.”  Many of the human tissue samples are obtained from surgical tissues (such as joint replacement surgery), non-transplantable organs collected within 2-12 hours post mortem (after death), or biofluids (such as whole blood samples, sputum, or urine).  Asterand currently offers one vial of frozen synovial fibroblasts from a knee of a 66 year old Caucasian female diagnosed with rheumatoid arthritis for $900

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    Cureline, Inc., is another company that specializes in human tissue research projects and offers biopharmaceutical and diagnostics companies the collection, preservation and processing of human biospecimens.  Cureline focuses their extensive biorepository on specimen collection for “solid tumors, hematology, inflammation, cardiovascular conditions, sepsis/infectious diseases, and other indications.”  Rheumatoid arthritis is one of the most studied diseases in recent years, according to Cureline.  Research studies have required snap-frozen samples of synovial fluid and synovial tissue (obtained by biopsy or during surgery) and urine samples from RA patients and normal controls.  Specimens from patients who have taken specific treatments or no treatment at all have been needed as well.

    Question for the RA community:
    If you have had joint surgery, were you asked if you would like to donate tissue samples for future research projects?  Did you allow a donation be collected?  Please describe how that came about.  Thank you.


    Lisa Emrich is author of the blog Brass and Ivory: Life with MS and RA and founder of the Carnival of MS Bloggers.

Published On: April 25, 2012