Gauri Saini

Genome-wide association study of Idiopathic Pulmonary Fibrosis susceptibility using clinically-curated European-ancestry datasets

This study identifies three novel genetic signals associated with idiopathic pulmonary fibrosis using GWAS and clinically-curated datasets, highlighting potential drug targets like MUC1 and NTN4.

Polygenic risk scores enhance the identification of carriers of monogenic forms of idiopathic pulmonary fibrosis

This study shows that polygenic risk scores improve the identification of IPF patients carrying rare variants associated with monogenic pulmonary fibrosis.

Contribution of dominant and recessive model effects to the genetic architecture of Idiopathic Pulmonary Fibrosis

This study performs GWAS of IPF using dominant and recessive models, identifying five new genome-wide significant signals and genes, including PMF1 and EPN3, and observing increased PMF1 expression in IPF patients.

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

The paper identifies rare pathogenic variants associated with pulmonary fibrosis by analyzing whole genome sequencing data and linking them to cytoskeletal dysfunction.

Genome-wide SNP-sex interaction analysis of susceptibility to idiopathic pulmonary fibrosis

This study identifies three genetic variants with sex-specific effects on IPF susceptibility but finds no significant difference in predictive accuracy of polygenic risk scores between males and females.

Association study of human leukocyte antigen (HLA) variants and idiopathic pulmonary fibrosis

This study investigates the association between HLA genetic variants and IPF risk using a meta-analysis of seven case-control studies, finding no consistent HLA region associations.

A lung targeted miR-29 Mimic as a Therapy for Pulmonary Fibrosis

A stabilized miR-29 mimic, MRG-229, shows efficacy at lower doses and good safety in preclinical models, supporting its development for pulmonary fibrosis.

Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis

This study identifies three new genetic loci associated with idiopathic pulmonary fibrosis and confirms 11 previously reported ones, highlighting mTOR signaling and mitotic spindle-assembly genes in disease susceptibility.