Rare disease registries (RDRs) are established for epidemiological, quality improvement and research purposes, and they are critical infrastructure for clinical trials. The aim of this scoping review was to review literature on the current state of RDRs in Australia; to describe how they are funded...
Adoption of this reference is essential to improving the visibility of rare conditions in health systems across the world. Greater recognition of the burden of rare diseases will motivate new actions and policies to address the unmet needs of the rare disease community....
Discontinued Acute lung injury; Amyotrophic lateral sclerosis; COVID-19 pneumonia; Dermatomyositis; SARS-CoV-2 acute respiratory disease Most Recent Events 17 Feb 2025 Alexion Pharmaceuticals plans the phase III AWAKE trial for Delayed graft function in Argentina, Australia, Austria, Brazil, Canada,...
To explore the perceptions of parents who had a child or adolescent (6-18 years) diagnosed with a rare disease who attended a mainstream school in Western Australia. Design and methods A cross-sectional online survey was conducted with 41 parents of children with a rare disease. Here we repor...
The discovery of a rare disease caused by deer ticks comes just days before the 2024 Illinois Tickborne Disease Conference, set for October 22 in Champaign, Illinois. Canva The event, hosted by IDPH,Southern Illinois University School of Medicine, and theIllinois Lyme Association, will bring tog...
Researchers at the Harry Perkins Institute of Medical Research and The University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease that causes muscle weakness, droopy eyelids and difficulty swallowing. The disease known as oculopharyngodistal myopathy (OPDM) is ...
3C). Nine individuals (32%) had optic atrophy; among them, eight presented with a stable condition and one experienced a progression of disease. Refractive disorders (6/28; 21%) included myopia and astigmatism. Among the neurological complications, movement difficulty and problems with coordination...
et al. The allelic landscape of human blood cell trait variation and links to common complex disease. Cell 167, e19 (2016). Google Scholar Day, N. et al. EPIC-Norfolk: study design and characteristics of the cohort. European Prospective Investigation of Cancer. Br. J. Cancer 80, 95–...
This is based on how the European Union classifies a medical condition as a rare disease (Commission of the European Communities, 2008). In this study, the term “early intervention” refers to occupational therapy interventions provided to infants or young children with a developmental disability....
We’re talking disease prediction, hyper-personalized marketing, and automated logistics that streamline everything. This isn’t a maybe – it’s an inevitability. Early investors will be the ones positioned to ride the wave of this technological tsunami. Ground Floor Opportunity: Remember the early...