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Nature Genetics 38, 391 (2006)

The advocates

For those who pay close attention to every last line of a paper, including the author affiliations and the acknowledgments, close reading is occasionally rewarded. Footnotes to two recent papers not only tell a compelling personal story but also underscore a significant change in how research in human genetics has been conducted over the past two decades.

In last month's editorial we discussed the intricacies of signaling pathways that are dysregulated in certain rare developmental syndromes. Cardio-facio-cutaneous syndrome (CFC) is characterized by craniofacial, cardiovascular, hair and skin abnormalities, as well as postnatal growth deficiency and hypotonia. In 1997, nine years after her son was diagnosed with CFC, Brenda Conger began to organize affected families around the world to advocate for education and research. CFC International, the organization she founded and leads, worked to collect medical reports, photographs and DNA from individuals diagnosed with CFC. The CFC International BioBank, which managed the sample collection, was instrumental in identifying components of the MAP kinase pathway as mutant in the disorder. The list of authors of the report by Rodriguez-Viciana et al. (Science  311, 1287–1290; 2006) includes Conger and is only the third time that a member of a genetic advocacy group who is not an academic has coauthored a gene discovery. The recent paper by Tetsuya Niihori et al. (Nat. Genet.  38, 294–296; 2006) reports similar findings and gratefully acknowledges "the support of CFC International in facilitating the collection of patient samples."

Conger had a precedent to follow. In June 2000, Nature Genetics published two reports showing that a rare mendelian disorder called pseudoxanthoma elasticum (PXE) is caused by mutations in ABCC6, a transmembrane transporter of unknown function. Gene identifications of this sort constitute a substantial fraction of the findings published in the journal and, except for the unusual affiliation of one of the coauthors, might not have warranted extra attention.

In 1994, Sharon and Patrick Terry's two children were diagnosed with PXE, which is characterized by calcification of elastic fibers in the skin, arteries and retina. PXE affects the cardiovascular system and gastrointestinal tract and is frequently associated with loss of vision owing to macular degeneration. The accomplishments that can be attributed to the Terrys in the wake of this unhappy news are remarkable. They raised money, established a registry of more than 2,000 affected individuals worldwide, created blood and tissue banks and helped spearhead the research effort that resulted in the gene identification. Without the essential resources they put together, and the focused attention they placed on a disease that had drawn little interest from the scientific community, it's safe to say that the molecular basis of PXE would still be a mystery. Moreover, in an unusual move, the patent rights to ABCC6 were assigned to PXE International, the nonprofit organization they established and that still catalyzes research on PXE.

The Terrys were not the first in this regard. Other parents pioneered the advocacy approach to seeking help for their children who had been diagnosed with a genetic disorder. A 2001 article in Wired by Sara Solovitch chronicled several of these individuals. Kathy Hunter, whose daughter was the first person in the United States to be diagnosed with Rett syndrome, founded an international association that has become a key resource in the effort to promote awareness and to devise a treatment. Jannine Cody, whose daughter was diagnosed with a partial deletion on chromosome 18q, not only established the Chromosome 18 Registry and Research Society but also subsequently became president of the Genetic Alliance (, an international coalition of lay advocacy groups, and arguably the world's premier voice for individuals and families affected by rare (and some not-so-rare) disorders.

Sharon Terry is now president and CEO of the Genetic Alliance, which this year celebrates 20 years of advocacy. Her biographical sketch lists an extensive range of contributions to the welfare of the 'consumers' of genetic technology. Among these are the Genetic and Rare Diseases Information Center at the NIH, an information clearinghouse staffed by specialists at the Alliance and charged with providing the best and most up-to-date information to individuals and their families. The Alliance has been outspoken in calling for uniform newborn screening panels and legislation outlawing genetic discrimination in the health insurance industry. Most recently, it has called for the establishment of genetic testing expertise in the US federal agencies tasked with ensuring that genetic tests are safe and useful to consumers.

The potential reach of organizations like the Genetic Alliance continues to grow. In January of this year, the March of Dimes released a comprehensive report on birth defects. The report notes that at least 70% of the more than six million children affected by birth defects each year could be positively affected by intervention. As part of a global effort to address this unmet need, the report specifically calls upon groups like the International Genetic Alliance (IGA) to serve as a linchpin in the partnerships among governments, scientists, health-care providers and patient support groups that will be necessary to reduce the number of birth defects in developing countries. The IGA, of which the US-based Genetic Alliance is but one member, was founded in Lyon, France in 2003 with the goal of giving "a voice to the millions of individuals and families all over the world suffering from genetic conditions."

The advocates are serving individuals and promoting research into rare diseases. But in addition to providing the first critical insight into disease etiology, these gene identifications can shed light on more common disorders as well. Regardless, the day will soon be upon us when genetics is better integrated into even routine medical practice, and lay advocacy groups will no doubt be crucially involved in translating research findings for the widest possible range of health-care consumers.

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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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