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Thanks to 400 very special families who have participated in the AS Family Genetic Project, we have reached a major milestone. Since the project began six years ago, we have obtained an impressive collection of data and DNA, identified regions on seven chromosomes that lead to susceptibility to AS, and have contributed to a study that identified a chromosome for uveitis (eye inflammation).

The NIH continues to praise the effort: "AS and spondyloarthritis are important health problems, with a strong genetic component. The identification of the genetic underpinnings of this group of disorders is essential. The goals of this project therefore, are laudatory, important, and urgent."

Now that we know which regions to look at on the chromosomes, the next phase is to focus closely within these regions in order to identify the exact genes that influence AS and related diseases. In order to accomplish this goal, a collaborative group of investigators along with the SAA are seeking a second NIH grant to fund four interrelated projects:

1. Identification of genes that cause AS (John Reveille, Principal Investigator, University of Texas, Houston)
2. Identification of genes that predict severity and outcomes (Michael Weisman, PI, Cedars Sinai Medical Center, Los Angeles)
3. Identification of the spectrum of related diseases in family members of patients with AS (John Davis, PI, UC San Francisco).
4. Determining how the genes interact with each other. (Momiao Ziong, PI, University of Texas, Houston)

The overall administration of the projects will remain under the expert guidance of Dr. John Reveille, and SAA will continue to play a major role in both recruitment and administration.

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The unifying quality of the families in the first phase is that they all have siblings with AS. Over the next several months, these siblings are being asked to fill out questionnaires that assess their quality of life and functional abilities. The questionnaires go by such names as BASFI (Bath AS Functional Index), BASDAI (Bath AS Disease Activity Index), and HAQ (Health Assessment Questionnaire). The answers to these questions may help to identify which specific genes contribute to the severity of the disease.

The next phase will rely on individuals rather than siblings. The goal will be to enroll a total of 1500 individuals with AS and 1500 without, who will be a control group. SAA's responsibility is to enroll 500 with AS and 500 controls.

The SAA and the NIH have been partners in funding the AS Family Genetic Project. Initially funded by SAA, the NIH expanded the effort with a generous $5.5 million, 5 year grant. While the collaborative team awaits a second NIH grant, SAA will continue with funding. Your support of SAA helps to make this progress possible. Click here to learn about the ways you can help - including volunteering for research