This chapter explores the genetic underpinnings and clinical implications of Familial Pulmonary Fibrosis (FPF), a hereditary form of interstitial lung disease. It emphasises the role of gene variation (commonly called mutation), particularly in telomere-related genes and surfactant-related genes, in the pathogenesis of FPF. The chapter discusses diagnostic criteria, including genetic screening and telomere length measurement, which are crucial for early identification and management of affected individuals. It highlights the importance of precision medicine in tailoring treatment strategies, improving patient outcomes, and understanding disease progression. In addition, the chapter reviews recent advancements in genetic research and their potential to customise clinical practice, ultimately aiming to enhance the understanding of FPF and its genetic predisposition. This chapter provides insight into the integral role that precision medicine will play in FPF as it emerges from the research world into the clinical one.

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All in the Family: Role for Precision Medicine in Screening and Disease Course Prediction

  • Laurence Pearmain,
  • Jack Callum,
  • Stefan Stanel,
  • Pilar Rivera-Ortega

摘要

This chapter explores the genetic underpinnings and clinical implications of Familial Pulmonary Fibrosis (FPF), a hereditary form of interstitial lung disease. It emphasises the role of gene variation (commonly called mutation), particularly in telomere-related genes and surfactant-related genes, in the pathogenesis of FPF. The chapter discusses diagnostic criteria, including genetic screening and telomere length measurement, which are crucial for early identification and management of affected individuals. It highlights the importance of precision medicine in tailoring treatment strategies, improving patient outcomes, and understanding disease progression. In addition, the chapter reviews recent advancements in genetic research and their potential to customise clinical practice, ultimately aiming to enhance the understanding of FPF and its genetic predisposition. This chapter provides insight into the integral role that precision medicine will play in FPF as it emerges from the research world into the clinical one.