Request for Information (RFI): Genetics of Multiple Autoimmune Diseases

Notice Number: NOT-AI-06-019

Key Dates
Release Date: March 7, 2006

Issued by
National Institute of Allergy and Infectious Diseases (NIAID), (

NIAID is considering renewing a resource for investigators studying the genetics of multiple autoimmune diseases.  This resource currently consists of a database containing clinical and genetic data and a repository containing serum samples and DNA from families in which 2 or more members suffer from 2 or more different autoimmune diseases.  The renewed resource would maintain or expand the database and associated samples and continue to make them available to researchers.  If scientifically justified, the renewed resource might also update the health information on individuals currently included in the database. If renewed, the resource will be designed to best meet the needs of investigators seeking to understand the role of genetics in autoimmune disease.   NIAID may issue a Request for Proposals (RFP) or a Request for Applications (RFA) to support this resource. 

This RFI is for planning purposes only and should not be construed as a solicitation or as an obligation on the part of the Government. The Government does not intend to make an award on the basis of responses to this RFI. The Government does not intend to pay for the preparation or use of any information submitted.

More than 80 clinically distinct autoimmune diseases collectively affect up to 8% of Americans1. Families often have two or more members with different autoimmune diseases, leading to the suggestion that shared genes may contribute to the development of different autoimmune diseases2. A few genes contributing to the development of multiple autoimmune diseases have been identified. For example, an allele encoding the phosphatase PTPN22 increases susceptibility to rheumatoid arthritis, type 1 diabetes, systemic lupus erythematosus, and Hashimoto thyroiditis but not multiple sclerosis.; To encourage and accelerate research on genes conferring susceptibility or resistance to the development of autoimmune diseases, NIAID established a resource for the study of families with multiple different autoimmune diseases.

NIAID requested proposals in 1999 (RFP-NIH-NIAID-DAIT-99-32) and an award was made to a consortium led by Dr. Peter Gregersen of the North Shore University Hospital with Dr. Tim Behrens of the University of Minnesota and Dr. Lindsey Criswell of the University of California, San Francisco3. A scientific advisory board convened by NIAID recommended that recruitment efforts focus on a subset of autoimmune diseases based on the evidence for genetic susceptibility and other considerations. The resource began enrolling families in May 2000 and currently contains biological samples (genomic DNA, sera, and EBV-transformed cell lines) and clinical and genotype information from members of approximately 360 families. The diseases and their representation in the current resource are shown below in Table 1.

The renewed resource would continue to make these samples and information available to the research community. The renewed resource might update the information contained in the database, depending upon the scientific justification. The renewed resource might also be expanded to include additional families and/or other autoimmune diseases.

A growing number of large repositories are dedicated to single autoimmune diseases (e.g., the North American Rheumatoid Arthritis Consortium, the International Multiple Sclerosis Genetics Consortium, and the Systemic Lupus Erythematosus Genetics Consortium).   In the interest of maximizing their use and minimizing duplication, we are also interested in ideas for coordinating the use of these repositories.   


Autoimmune Disease



Rheumatoid Arthritis



Juvenile Rheumatoid Arthritis



Systemic Lupus Erythematosus



Multiple Sclerosis



Autoimmune Thyroid Disease (Graves' or Hashimoto's)



Type I Diabetes (Insulin Dependent)






Inflammatory Bowel Disease (Crohn's Disease or Ulcerative Colitis)



Primary Sjögrens



Total affected



Table 1.  Autoimmune diseases and the representation (number and % of affected) in the current resource.   MADGC has samples from approximately 1,000 unaffected family members. 

Information Requested
Information in the following areas will help NIAID decide whether this resource should be renewed and, if renewed, how the resource should be designed. Interested individuals and groups are invited to respond.  Respondents need not address all points. 

  1. Key questions in understanding the genetics of multiple autoimmune diseases  
  2. If the existing resource is likely to contribute to answering these questions, please address the following points:
    1. Likelihood of finding susceptibility genes with the existing resource
    2. Optimal quality, availability, and use of the samples
  3. If the existing resource is unlikely to contribute to answering these questions, please address these points:
    1. Value of repositories in genetic research (examples)  
    2. Design of the repository/resource
    3. Donor information collected and provided to researchers
  4. Value of follow-up information in identifying later onset illnesses
    1. Most efficient and practical way to obtain accurate and complete updated information 
  5. Additional support best provided by the resource (e.g., bioinformatics, genotyping) 
  6. Measuring the value of a genetics resource (e.g., numbers of samples stored, requests for samples, acknowledgment in publications, etc.) 
  7. Feasibility of instead coordinating multiple, single autoimmune disease resources to advance the study of the genetics of multiple autoimmune diseases
    1. Obstacles to coordination and collaboration
    2. Plans for linking such single disease repositories 
  8. Your interest in developing or using a resource for investigating the genetics of multiple autoimmune diseases.
  9. Any other issues you feel are important   

Please limit your written response to a maximum of 10 pages.  Single institutions or consortia may be considered in the final initiative. Academic, private, and government groups are encouraged to respond. 

Responses should be identified with this Notice identifier (NOT-AI-06-019), and are due by APPROXIMATELY THREE MONTHS AFTER RELEASE, 2006.  Please submit them (by e-mail if possible) to:

David R. Johnson, Ph.D.
Division of Allergy, Immunology and Transplantation
National Institute of Allergy and Infectious Diseases
Room 3034
6610 Rockledge Drive
Bethesda, MD 20892-6601 (use 20817 for express mail)
Telephone: 301-451-4409
Fax: 301-480-1450
Acknowledgement of receipt of responses will not be made, nor will respondents be notified of the Government's assessment of the information received. No basis for claims against the Government shall arise as a result of a response to this request for information or the Government's use of such information as either part of our evaluation process or in developing specifications for any subsequent announcement. Responses will be held in a confidential manner. Any proprietary information should be so marked.

ADCC 2005 report:

OMIM #109100:

Multiple Autoimmune Disease Genetics Consortium: 

Weekly TOC for this Announcement
NIH Funding Opportunities and Notices

Office of Extramural Research (OER) - Home Page Office of Extramural
Research (OER)
  National Institutes of Health (NIH) - Home Page National Institutes of Health (NIH)
9000 Rockville Pike
Bethesda, Maryland 20892
  Department of Health and Human Services (HHS) - Home Page Department of Health
and Human Services (HHS) - Government Made Easy

Note: For help accessing PDF, RTF, MS Word, Excel, PowerPoint, Audio or Video files, see Help Downloading Files.