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]
2024
K Pavisich , H Jones , G Baynam
Rare : Open Research in Rare Diseases , 2024 , p 100022.
0
24
Bone Manifestations in Snyder-Robinson Syndrome
T Koerner , A Green , D Pace-Farr , ... , M Kutler
Rare : Open Research in Rare Diseases , 2024 , p 100025.
0
0
J Harris , J Fish , J Griffin , ... , F van Dijk
Rare : Open Research in Rare Diseases , 2024 , p 100026.
0
0
ERDHEIM-CHESTER DISEASE: CHALLENGES IN DIAGNOSING A RARE MULTISYSTEMIC DISEASE IN MALAYSIA
Q Lau , D Gan , S Gan , ... , A Mohamed
Rare : Open Research in Rare Diseases , 2024 , p 100027.
0
0
M Yadav , B Venkatachalam , A Parmar , ... , S Sinha
Rare : Open Research in Rare Diseases , 2024 , p 100029.
0
0
L Claus , I Lekkerkerker , B van der Zwaag , ... , J van Tintelen
Rare : Open Research in Rare Diseases , 2024 , p 100030.
1
0
NOMA (CANCRUM ORIS) IN AFRICA: A NEWLY ADDED NEGLECTED TROPICAL DISEASE
R Adesola , F Ajibade , M Agaie
Rare : Open Research in Rare Diseases , 2024 , p 100031.
0
0
G Michela , C Lucia , S Gionata , ... , V Domizia
Rare : Open Research in Rare Diseases , 2024 , p 100032.
0
0
Undeleting the voice of people with 22q11 deletion syndrome: a scoping review
S Ayoub , B Elger , E De Clercq
Rare : Open Research in Rare Diseases , 2024 , p 100033.
0
53
A Werner-Lin , P Khincha , A Thompson , ... , S Savage
Rare : Open Research in Rare Diseases , 2024 , p 100034.
0
50