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Rare Diseases: Prevalence, Treatment Options and Research Insights

• Authors : Author Unknown

Subjects: Rare diseasesMEDICAL / Evidence-Based Medicine; HEALTH & FITNESS / Diseases & Conditions / General; MEDICAL / Clinical Medicine

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Rare Diseases : Challenges and Opportunities for Social Entrepreneurs

• Authors : Nicolas Sireau

Subjects: Pharmaceutical industry; Rare diseasesBUSINESS & ECONOMICS / Entrepreneurship; BUSINESS & ECONOMICS / Nonprofit Organizations & Charities / General; MEDICAL / Diseases

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Orphanet journal of rare diseases. [electronic resource].

Subjects: Rare diseases -- Periodicals; Rare Diseases; Orphan Drug Production

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The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

• Authors : Lindstrand, Anna, Author; Leinfelt, Anna, Author; Lyander, Anna, Author ...

Subjects: Chromosomal rearrangements; Clinical diagnostics; Genome sequencing

• Source: Genome Medicine. 18(1)

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“Code of ethical practice” for sharing and access to personal data for AI-/ ML-based technologies in rare diseases genetic NBS research project: a collaborative construction in a European IMI project

• Authors : Martin, Sylvia, Ph.D., 1987-, Author; Piperkova, Aneta, Author; Zschüntzsch, Jana, Author ...

Subjects: Code of ethical practice; Genetic newborn screening; Artificial intelligence

• Source: AI and Ethics. 5(5):4843-4853

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Empowerment in Individuals with Facial Anomalies: Psychosocial Challenges and Social Work in Rare Diseases.

• Authors : Özkan, Elvan Ulucan¹

• Source: Current Approaches in Psychiatry / Psikiyatride Guncel Yaklasimlar. 2026, Vol. 18 Issue 2, p427-437. 11p.

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The Potential of Digital Twins for Pediatric Rare Diseases.

• Authors : Malik‐Sheriff, Rahuman S.^1,2,3 (AUTHOR) ; Limdi, Anurag¹ (AUTHOR); Petsalaki, Evangelia¹ (AUTHOR)

• Source: CPT: Pharmacometrics & Systems Pharmacology. Apr2026, Vol. 15 Issue 4, p1-7. 7p.

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Establishing an adult rare diseases surveillance registry during the COVID-19 pandemic: the Wales experience.

• Authors : Olson, Michael¹ (AUTHOR); Ashman, Annie¹ (AUTHOR); Davies, Llion¹ (AUTHOR)

• Source: Journal of Rare Diseases. 3/9/2026, Vol. 5 Issue 1, p1-6. 6p.

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Macrophage Extracellular Vesicles: Therapeutic Strategies for Corneal Fibrosis in Rare Diseases.

• Authors : Li, Haiming^1,2 (AUTHOR); Loewinger, Anne-Sophie^1,2,3 (AUTHOR); Roshandel, Danial^3,4 (AUTHOR)

• Source: Biomolecules (2218-273X). Mar2026, Vol. 16 Issue 3, p346. 27p.

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Leveraging real-world data to conduct externally controlled trial for rare diseases with count-type endpoints: utilizing multiple entries – a simulation study.

• Authors : Sun, Tianyu¹ (AUTHOR) ; Liao, Eileen¹ (AUTHOR); Shao, Nan¹ (AUTHOR)

• Source: Journal of Biopharmaceutical Statistics. May2026, Vol. 36 Issue 3, p337-349. 13p.

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