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Rare

Resumen/Descripción – provisto por la editorial en inglés

Rare. Open Research in Rare Diseases is an open-access, multidisciplinary, international journal that aims to have a clinical impact on rare disease patients. It publishes rigorously peer-reviewed articles on research that improves the well-being and quality of life of patients with rare diseases - diagnosed or undiagnosed - and their families. The journal has a broad scope, including but not limited to: -Direct clinical and psychosocial care: diagnosis, follow-up, treatment, therapeutic advances, clinical trials, quality of life -Increasing diagnostic yield and early diagnosis: implementation of new DNA techniques, provision of genetic tests and newborn screening -Pharmacology: development and regulation of orphan drugs -Application of technologies to diagnose or interpret genetic variants -Health economics and public policies: regulatory, reimbursement policies -Legal perspectives: data sharing, privacy issues -Ethics: primary prevention and family information -Patient contributions to research: late diagnosis (patient journey) -International collaborative projects, initiatives by associations and the rare disease community. The journal is open in every sense: patients are encouraged to contribute with their experiences and needs, as they are one of the pillars of medical research. Publication formats include full-length research articles, reviews, case reports, correspondence, short communications, and commentaries.