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When Science Is Not Enough: Fighting Genetic Disease in Brazil

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Science  01 Apr 2005:
Vol. 308, Issue 5718, pp. 55-57
DOI: 10.1126/science.1111730

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The ability to identify genetic signs of diseases is advancing faster than the ability to treat those diseases. For Mayana Zatz, a professor of genetics at São Paulo University in Brazil, this mismatch is a compelling call to conduct basic laboratory research into such diseases and to do what she can to improve the lives of those afflicted by them. In the case of Duchenne muscular dystrophy and other types of muscular dystrophy, Zatz has helped uncover the biomolecular bases of some of these diseases, counseled thousands of affected individuals and families about how to manage their condition, and established an association and clinic to help improve the lives of her country's poorest victims of Duchenne muscular dystrophy. Zatz chronicles the research, ethical conundrums, and legal challenges that she confronts in her molecules-to-society attack on Duchenne muscular dystrophy and other neuromuscular disorders.

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