Fausta Alfano

Dr. Fausta Alfano

orcid

Research Focus & Metrics

Academic Career Length

1Year (2026-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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Journal Article
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CTClaudio Tirelli
Claudio Tirelli
OROrnella Rondinone
Ornella Rondinone
FAFausta Alfano
Fausta Alfano
JCJacopo Cefalo
Jacopo Cefalo
GNGiulia Nalesso
Giulia Nalesso
MMMichele Mondoni
Michele Mondoni
The pathogenesis of interstitial lung diseases (ILDs) is significantly influenced by genetic factors, yet lack of consensus on the optimal timing for genetic testing and precise patient selection could hinder clinical practice. Position papers currently suggest testing patients presenting with a suspect of Familial Pulmonary Fibrosis (FPF) and with extra-pulmonary syndromic features (i.e., premature graying, cytopenias, liver cirrhosis) for genetic screening. Diagnostics rely on next-generation sequencing (NGS) to identify pathogenic/likely pathogenic variants in telomere-related and surfactant-related genes. A specialized genetic consultation is essential in the correct interpretation of test results, especially when variants of uncertain significance (VUS) are detected. Adoption of other tests, such as polygenic risk scores, could further support precision medicine in ILD care. Future research might address the knowledge gap regarding early test prescription and the role of therapy, including lung transplant stratification and antifibrotic therapy, in FPF.