Rare protein disease research unlocks new treatment pathways
Scientists have mapped how amyloid proteins damage the heart and identified biomarkers that could transform patient management in systemic amyloidoses, a group of rare but often fatal diseases. These discoveries are accelerating drug development and could expand treatment options for conditions that currently lack effective therapies, opening a significant market opportunity for diagnostics and therapeutics.
Originaltitel: Successes in translation
<p>Translational research is key in advancing the diagnosis and therapy of systemic amyloidoses. This paper summarises our presentations at the ISA Workshop on Translation in Systemic Amyloidoses held in Athens on September 25-26, 2023. The critical advances made by the pioneers in the field are reviewed, with particular attention to the discoveries and developments of utmost importance to our understanding of what amyloid is and how the substance affects functions. Examples of translational research regarding the mechanisms of cardiac damage in light chain amyloidosis, the role of biomarkers in improving our understanding of the biology of the disease and patients' management, and the molecular mechanisms involved in the cytotoxicity are described. Advances in basic research continue to open new therapeutic avenues.</p>