DNA methylation signature in PAH, a potential molecular diagnostic tool

Presented at PVRI 2026 Congress by Jair Tenorio, Institute of Medical & Molecular Genetics (INGEMM), La Paz University Hospital

Summary

Understanding PAH has advanced through genetic and epigenetic analysis. DNA methylation plays a crucial role in diagnosing PAH, despite challenges in classifying genetic variants. A DNA methylation signature for PAH has been developed, highlighting the importance of various genes. Collaboration in research is essential, and methylation analysis shows promise as a diagnostic tool, with ongoing validation efforts across different cohorts.

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