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The article proposes to discuss the many complexities involved in the incorporation of new health technologies for rare diseases, with a central focus on the case of cystic fibrosis. Cystic fibrosis was chosen because it is a autosomal recessive genetic disorder, considered the most common of the rare diseases. The disease has also benefited greatly from investments in research in the field of molecular biology, mainly in the United States, but also among European research groups, which resulted in the registration and marketing of four new drugs. These new drugs act for the first time on the basic defect in cystic fibrosis. From a perspective that views rare diseases as a field of research woven among many others, the article aims to problematize cystic fibrosis from a more person-centered approach, the duality of witnessing from afar the molecularization of life, the emergence of last-generation drugs that interrupt, at the molecular level, the cascade of errors and thus the symptoms and evolution of the disease. The article aims to bring various elements to the debate that traverse the complex local reality of Brazilian cystic fibrosis patients in a global context of technological innovation and with a break in the treatment paradigm. Based on the field of rare diseases, including the presentation of cystic fibrosis in the age of precision medicine, alongside discussions on biopolitics in a context of health innovation and high-cost drugs, the article aims to shed light on the current challenges and possibilities.

Doenças raras na agenda da inovação em saúde: avanços e desafios na fibrose cística