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2 articles matching "pathogenesis"

ResearchBIORXIVApr 5

Preprint: Burden of rare pathogenic variants suggests disrupted cytoskeletal organisation in the pathogenesis of pulmonary fibrosis

Researchers studied the genes of people with pulmonary fibrosis (a disease where lung tissue becomes scarred and stiff) to find rare genetic changes that might cause the disease. They found that problems in genes related to how cells maintain their structure may play an important role in developing pulmonary fibrosis. This discovery could help doctors better understand why some people develop this serious lung condition.

WHY IT MATTERSIf you or a family member has pulmonary fibrosis, this research could eventually help explain your genetic risk and lead to new treatments targeting the cellular structures that are damaged in this disease.
Good to knowIdiopathic Pulmonary FibrosisPulmonary FibrosisRead →
Clinical trialCLINICALTRIALSMar 26

Trial Now Recruiting: Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease (NCT02504879)

Researchers are looking for people with melorheostosis, a rare disease where bones become abnormally thick and hard, to join a study. The study will follow participants over time to understand how the disease develops and what causes it. Doctors will do physical exams and collect medical information from people with the disease and their unaffected family members.

WHY IT MATTERSThis is an active recruiting trial sponsored by the National Institutes of Health that could help researchers understand melorheostosis progression and identify disease mechanisms, potentially leading to future treatments for this condition with limited research.
You can act on thismelorheostosisRead →

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