Rare PDF

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.

Volume 1: 2023