Expert Consensus on Rare Disease Pharmaceutical Care in Hospitals (2025)
Xiehe Yixue ZazhiIn recent years, with strong support from the national government, the diagnosis and treatment of rare diseases in China have achieved significant progress.
Rare Disease Drug Committee of the Chinese Pharmaceutical Association
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An Easyguide to Rare Diseases in Ireland: For Government, the General Public, Media and Political Parties [PDF]
, 2020 Rare diseases are characterised by their relatively low prevalence (less than 1 in 2,000 people in the EU). To have a rare disease is to have a condition that often goes undiagnosed for years. Doctors may never have seen the condition before and hospital
McKnight, Amy J. +4 more
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Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease [PDF]
, 2022 Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A common feature of many diseases is a substantial delay in patients receiving a correct diagnosis; this protracted path to diagnosis is termed ‘the ...
Hampson, Caitlin +7 more
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Anaemia in Waldmann’s disease: A rare presentation of a rare disease
World Journal of Gastrointestinal Endoscopy, 2015 A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin.
Shahira A, El-Etreby +5 more
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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases [PDF]
, 2022 Publisher Copyright: © 2022 Association for Molecular Pathology and American Society for Investigative PathologyMany patients experiencing a rare disease remain undiagnosed even after genomic testing.
Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium
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Rare Autoinflammatory Diseases
Turkish Archives of Pediatrics, 2021 Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
BAŞARAN, HALİDE ÖZGE +2 more
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An easyguide to rare diseases in Ireland and consensus for action for government, the general public, media and political parties [PDF]
, 2020 The aims of this guide are to: • Explain what a rare disease is and how it is defined in health policy • Provide insights into living with a rare disease • Identify priorities patient advocacy groups would urge the Irish Government to include in the
IPPOSI +2 more
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Managing rare diseases: examples of national approaches in Europe, North America and East Asia
, 2022 Around 4% of the global population suffers from a rare disease. Apart from the medical aspect, economic, organisational, and political approaches remain key aspects when it concerns the evolution of the world of rare diseases.
Cocqueel-Tiran, Florence +13 more
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Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome [PDF]
, 2022 Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning ...
Magdalena BUDISTEANU +9 more
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Overview of patients’ cohorts in the French National rare disease registry
Orphanet Journal of Rare Diseases, 2023 In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature.
Thibaut Pichon +7 more
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