Pathobiologie und Genetik

Zusammenfassung

Die Genetik und Pathobiolgie wurde beim 7. Weltsymposium für pulmonale Hypertonie in den Task Forces 2 und 3 behandelt. Die Genetik-Taskforce fokussierte sich zusätzlich auf präzisionsmedizinische Ansätze und die Pathobiologie-Arbeitsgruppe konzentrierte sich stark auf neue Omics-Technologien. Daher werden im Folgenden nicht nur die aktuellen Wissensstände zur Genetik, genetischen Untersuchungsverfahren und molekularen pathophysiologischen Änderungen zusammengefasst, sondern durch Kommentare eingeordnet und ergänzt. Abschließend werden die Wichtigkeit von nationalen und internationalen Biobanken und Kohorten sowie die aktive Einbindung von Patient*innen und Familien hervorgehoben.

Abstract

Genetics and pathobiology were addressed at the 7^th World Symposium on Pulmonary Hypertension in Task Forces 2 and 3. The Genetics Task Force also focused on precision medicine approaches, and the Pathobiology working group concentrated heavily on new omics technologies. Therefore, the following not only summarises the current state of knowledge on genetics, genetic testing methods, and molecular pathophysiological changes, but also places it in context and critically discusses it. In addition, the importance of national and international biobanks and cohorts, as well as the active involvement of patients and families, is emphasized.

Schlüsselwörter

BMPR2 - Multi-Omics - Biobanken - genetische Diagnostik

Keywords

BMPR2 - multi-omics - biobanks - genetic diagnostics

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