December 2012

Kelly Donahue
Communications Director
Arthritis Foundation, Great Lakes Region
4630 Richmond Road, Suite 240
Cleveland, OH 44128
800-245-2275, ext. 6401



 Study to Identify Genetic Components That Contribute to Risk of Developing Juvenile Idiopathic Arthritis

CINCINNATI – The Arthritis Foundation has awarded a two-year grant totaling $200,000 to a researcher at the Cincinnati Children’s Hospital Medical Center to identify genetic components related to the risk of developing Juvenile Idiopathic Arthritis (JIA). The study will also test the idea that a new DNA change may occur in a child that is a major contributor to the disease.

Susan D. Thompson, Ph.D. will focus her study on children who get arthritis at very young ages and on families that have multiple children with JIA or multiple generations with JIA. Using DNA samples from children in the United States – including samples collected in Cincinnati, Cleveland, Columbus, Atlanta, Chicago and New York – Thompson hopes to refine the understanding of JIA. The disease most often occurs sporadically with no history of the disease in the family. Research has uncovered many genes that might contribute a small amount to the disease, but there are still missing pieces. A new or “de novo” mutation in the DNA replication could alter protein function encoded on a gene. Studying the “exome,” or that part of the genome that contains the DNA sequence that codes for proteins, zeroes in on the most likely place to find changes related to JIA.

Thompson’s research will be conducted at Cincinnati Children’s Medical Center Division of Rheumatology.

The exome sequence for a small number of families where there are strong patterns of JIA inheritance will also be studied. Each family, including those with three or more relatives with JIA, has the potential to provide new information about a gene or biological pathway critical to the disease. The study expects to reveal very rare variances in DNA in one or both parents. Additionally, important DNA sequences will be identified by determining what the affected family members share in their exomes that is different from the unaffected members.

Results of the study are expected to lead to identification of new genes and pathways related to JIA susceptibility and could lead to earlier and more accurate diagnoses as well as medications.

Thompson began her career as an arthritis investigator at Cincinnati College of Medicine in a laboratory that was collaborating with Dr. David Glass to study T cells found in the joints of children with arthritis. Subsequently, she was encouraged by Dr. Glass to apply for funding from the Arthritis Foundation as a Young Investigator and later she accepted a faculty position at Children’s Hospital. That first grant set the stage for her career in pediatric rheumatology.

Her family, which includes two daughters in high school, loves to travel, especially cruising. They have a four-year-old Havanese, a type of Bichon, named Bailey.

The goals of the Arthritis Foundation’s Innovative Research Grant Awards are to:

•Promote development of personalized medicine (i.e. best practices) for individuals with rheumatoid arthritis and juvenile arthritis;

•Encourage discovery and development of new interventions for osteoarthritis;

•Ensure applicability of research to humans with arthritis.

 Striking one in every five adults and 300,000 children, arthritis is the nation’s leading cause of disability.  The Arthritis Foundation ( is committed to raising awareness and reducing the unacceptable impact of this serious and painful disease, which can severely damage joints and rob people of living life to its fullest.  The Foundation funds life-changing research that has restored mobility in patients for more than six decades; fights for health care policies that improve the lives of the millions who live with arthritis; and partners with families to provide empowering programs and information.

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