Publications by authors named "E M Rath"
Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance (VUS) in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease (CHD).
Methods: Between April 2019 and December 2021, 600 probands meeting cardiovascular disorder criteria from 17 cardiology and genetics clinics across Australia were enrolled in the Flagship and underwent GS.
Live-cell Ca imaging is an important tool to detect activation of receptors by a putative ligand/drug and complements studies on transport processes, as intracellular Ca changes provide direct evidence for substrate fluxes. Organoid-based systems offer numerous advantages over other in vitro systems such as cell lines, primary cells, or tissue explants, and in particular, intestinal organoid culture has revolutionized research on functional gastrointestinal processes. Calcium imaging using the fluorescent Ca indicator Fura-2-AM can be applied to 3D intestinal organoids, which show an excellent dye-loading efficiency.
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- Sarcoidosis is a complex disease that affects multiple systems in the body, requiring collaboration among different medical specialties for effective diagnosis and treatment.
- It's crucial to involve patients early in the management process to ensure their preferences are considered in decision-making.
- The position paper aims to enhance cooperation among medical experts and patient advocacy groups to improve care for sarcoidosis patients in Austria.