NAAF Hails Autoimmune Discovery!

Jun 04, 2013

SAN RAFAEL, CA – June 4, 2013 – The National Alopecia Areata Foundation (NAAF) applauds the National Institutes of Health’s (NIH) announcement that NIH scientists and their colleagues have discovered that a gene called BACH2 may play a central role in the development of autoimmune diseases. Since alopecia areata is the most common autoimmune disease – and there are currently no FDAapproved treatments for it -- these findings are of great interest as they point to another promising avenue of research for developing an effective therapy for this disease.

In a study, researchers at the National Cancer Institute (NCI) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), both part of NIH, found the BACH2 gene to be a critical regulator of the immune system’s reactivity in mice. The foundation for this research was earlier studies showing that DNA from patients with diverse autoimmune disorders often had minor alterations in the BACH2 gene.

“We found that the BACH2 gene played a key role in regulating the switch between inflammatory and regulatory cells in mice,” said NIAMS researcher Kiyoshi Hirahara, M.D. “The loss of the BACH2 gene in CD4+ T cells caused them to become inflammatory, even in situations that would normally result in the formation of protective regulatory cells.” The team found that if mice lacked the BACH2 gene their cells became inflammatory and the mice died of autoimmune diseases within the first few months of life. When they re-inserted BACH2 (using gene therapy) into BACH2-deficient cells, their ability to produce regulatory cells was restored.”

“The identification and characterization of BACH2 is an important advance in our understanding of autoimmunity,” according to Jeffrey Frelinger, PhD at the University of Arizona’s Department of Immunobiology. “The identification of a critical role for BACH2 in the production and maintenance of regulatory T cells provides a new clue into the understanding of the autoimmune process.” Dr. Frelinger cautiously adds, “While a causative role of Treg (regulatory t cells which constrain immune responses) in alopecia areata is not yet firmly established, it seems likely that Treg production and survival will be critical in alopecia areata patients. BACH2 provides another potential point of intervention in the control of autoimmunity in alopecia areata.”

"NAAF launched our Treatment Development Program in 2010 to prepare for advances like this one. We will now meet with our Scientific Advisory Council to determine what follow-up studies for alopecia areata can build on the NIH findings, “says NAAF’s CEO Vicki Kalabokes. “For one thing, I expect we can evaluate samples in NAAF's patient registry to determine whether our patients are missing or have an altered version of the BACH2 gene."

Alopecia (AL-OH-PEE-SHA) areata (AIR-EE-AH-TAH) is the most common autoimmune disease, affecting over 6.5 million Americans, and 145 million people worldwide. It manifests with total or partial loss of scalp and body hair. There currently is no cure, and no treatment that is approved by the Food and Drug Administration. It occurs in both sexes and all races and ages, but young people are affected most often. Alopecia areata usually starts with one or more small, round patches on the scalp. In some people, the disease can affect hair on the scalp until all of it is lost (alopecia totalis), or over the entire body, including the eyebrows and eyelashes (alopecia universalis).

NAAF, headquartered in San Rafael, CA, funds research to find a cure or acceptable treatment for alopecia areata, supports those with the disease, and advocates on their behalf. Through the Alopecia Areata Treatment Development Program, NAAF is paving the way for efficient and effective clinical trials by investing in promising research and improving the autoimmune disease research infrastructure. In partnership with the National Institutes of Health, NAAF developed and now funds a Registry, Biobank and Clinical Trials Network through which we collect patient data and biological samples and connect these resources to qualified researchers. We learn from research into therapies for other autoimmune diseases and contribute to the collective understanding through our research on the relatively easy-to-access hair follicle. NAAF is governed by a volunteer Board of Directors, has a prestigious Scientific Advisory Council, and meets the rigorous governance and transparency standards of the Better Business Bureau Wise Giving Alliance and the National Health Council. Founded in 1981, NAAF is widely regarded as the largest, most influential, and most representative foundation associated with alopecia areata.

To learn more about alopecia areata, please contact the National Alopecia Areata Foundation office at 415-472-3780 in San Rafael, CA or visit the NAAF website at

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