Periodical (Journal)

ISSN  :   2950-0087 ( Online )   Active

Journal Rare : Open Research in Rare Diseases

Aim & Scope

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. [1]

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10 RESULTS in 21 msec

Bone Manifestations in Snyder-Robinson Syndrome

T Koerner , A Green , D Pace-Farr , ... , M Kutler

Rare : Open Research in Rare Diseases , 2024 , p 100025.


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