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Funding rare disease therapies in Australia: ensuring equitable access to health care for all Australians [PDF]
, 2014 This report argues that Australia’s system for funding new therapies that treat rare diseases is in need of reform. Overview In the last 4 years only two new therapies have been approved under Australia’s current program for rare disease therapies ...
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Antioxidants, 2020 The thioredoxin family consists of a small group of redox proteins present in all organisms and composed of thioredoxins (TRXs), glutaredoxins (GLRXs) and peroxiredoxins (PRDXs) which are found in the extracellular fluid, the cytoplasm, the mitochondria ...
Marta Seco-Cervera +4 more
doaj +1 more source
Model of Care for Rare Diseases
, 2020 This document was developed by the National Clinical Programme for Rare Diseases. It follows many recommendations of the 2014-2018 Department of Health first National Plan for Rare Diseases.
National Clinical Programme for Rare Diseases
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Orphanet Journal of Rare DiseasesBackground The delay in diagnosis for rare disease (RD) patients is often longer than for patients with common diseases. Machine learning (ML) technologies have the potential to speed up and increase the precision of diagnosis in this population group ...
Georgi Iskrov +10 more
doaj +1 more source
BMC Pediatrics, 2020 Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive ...
Marcello Niceta +11 more
doaj +1 more source
Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Orphanet Journal of Rare Diseases, 2023 Background Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim of this study is to provide data on
Monica Mazzucato +5 more
doaj +1 more source
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye +33 more
wiley +1 more source
Management of Rare Diseases in Children: Status Quo, Progress and Prospects
, 2022 There is uniformed definition of rare diseases in children, which can be viewed as rare diseases that develop in childhood, or the childhood of patients with rare diseases. Rare diseases are rarely seen in clinical setting, various in types and difficult
ZHANG Bili, LIU Wei, HUANG Jinyue
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Orphanet Journal of Rare DiseasesThe landscape of orphan therapies has predominantly emphasized drugs and biologics over medical devices for rare diseases. Recent technological advancements, particularly in digital remote monitoring and other innovative technologies, have unveiled new ...
Marc Dooms +8 more
doaj +1 more source
COVID-19, A New Possible Mimicker of Interstitial Lung Disease Related to Primary Sjögren’s Syndrome
Case Reports in Medicine, 2023 Introduction. Acute exacerbation of interstitial lung disease (ILD) and COVID-19 pneumonia show many similarities, but also COVID-19 sequelae, mainly when fibrotic features are present, can be difficult to distinguish from chronic ILD observed in ...
Alessia Laneri +7 more
doaj +1 more source