iiinova — where your digital self keeps evolving

We relied in whole-genome sequencing data and tested different #PRS methods. We found consistent predictive potential of #PRS identifying #IPF QV carriers improving models based just on current clinical standards. More studies assessing the cost-benefit are needed.

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In a new study led by @aitanaag90.bsky.social we tested if polygenic risk scores #PRS of #IPF serve as instruments to predict patients that likely carry QVs in PF genes, and thus indicate the target population that could benefit more from sequence-based testing.

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Rare variants with deleterious potential (QVs) in adult pulmonary fibrosis (PF) genes, many of which are likely to be causal, are important in #IPF progression.

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CFlores-Lab @labcflores.bsky.social · 30/09/2025

Despite that, not all patients benefit from genetic testing by different causes, including unequal access to genetic testing by countries and hospitals. Thus, many #IPF patients continue to remain uncharacterized for genetic risks.

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Reposted by CFlores-Lab

This was possible to our collaborators & the efforts of @beaguilleng.bsky.social. We are also in debt with the funding agencies making this possible ACIISI-GobCan, @isciiisalud.bsky.social y.social , @cienciagob.bsky.social b.bsky.social , ITER-Cabildo de Tenerife, & @ciberisciii.bsky.social

b.bsky.social

Bluesky

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This was possible to the huge team efforts and @evatosco.bsky.social We are in debt with all funding agencies making this possible

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Taken together, our results support an underlying landscape of genetic heterogeneity in the spectrum of rare variants influencing #ARDS susceptibility.

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Most notable genetic associations were observed for variants in gene clusters enriched in the Toll-like receptor cascades and the Interferon signaling. We also found no overlap between the genetic risk for #ARDS and patient survival.

We show that rare variants with predicted impact in gene function and affecting biologically proximal gene clusters are associated with #ARDS risk among sepsis patients.

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Rare genetic variant risks in patients with sepsis-associated acute respiratory distress syndrome - Respiratory Research

Here, we identified rare genetic risk factors of sepsis-associated #ARDS using a gene-clustering approach by leveraging a large exome sequencing of the GEN-SEP study and information from biological processes for adapting to patient heterogeneity. link.springer.com/article/10.1...

link.springer.com

Respiratory Research - Acute respiratory distress syndrome (ARDS) is a complex, heterogeneous, and deadly condition often resulting from pulmonary lesions due to sepsis, among other causes. There...

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To date, sequencing-based studies assessing rare genetic variant effects on #ARDS have been conducted with small cohorts or with affected families with immune defects.

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It has been shown that common genetic variants (>1% population frequency) in genes involved in cellular adhesion, platelet activation, vascular permeability, and immune-inflammatory processes have a role in #ARDS susceptibility.

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Host genetic variation influence responses to infections. Sepsis is a severe response to infection and these patients can develop acute respiratory distress syndrome #ARDS

CFlores-Lab @labcflores.bsky.social · 14/03/2026

Yesterday was another great day for @labcflores.bsky.social There’s a new Doctor in town. Very proud of #EvaSuarez-Pajes for such a mature defense that incorporated a tremendous amount of work. Keep up the good work!

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Reposted by CFlores-Lab

CFlores-Lab @labcflores.bsky.social · 28/01/2026

Delighted to share that one of our studies in #IPF has been highlighted by @rachelnuwer.bsky.social in @nature.com among the six highlights from lung health research. www.nature.com/articles/d41...

nature.com

Six highlights from lung-health research

Fibrosis survival, long COVID’s lasting toll and other highlights from lung studies.

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CFlores-Lab @labcflores.bsky.social · 28/01/2026

Delighted to share that one of our studies in #IPF has been highlighted by @rachelnuwer.bsky.social in @nature.com among the six highlights from lung health research. www.nature.com/articles/d41...

nature.com

Six highlights from lung-health research

Fibrosis survival, long COVID’s lasting toll and other highlights from lung studies.

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Reposted by CFlores-Lab

Adrián Gómez @adrian-gomez.bsky.social · 27/01/2026

I am deeply grateful to my supervisors @ciuffreda_lau and @labcflores.bsky.social for their guidance; to my collaborators, for the teamwork and the funding bodies for supporting this work.

A bench-to-data analysis workflow for respiratory syncytial virus whole-genome sequencing with short and long-read approaches - Genome Medicine

The findings underscore the importance of continuous monitoring for coinfections in #RSV genomic surveillance, particularly in immunocompromised patients. The revised version of the study is now available and is fully open. Check it out! link.springer.com/article/10.1...

link.springer.com

Genome Medicine - Genomic surveillance of respiratory syncytial virus (RSV) enables detecting and monitoring of circulating lineages and the emergence of amino acid substitutions affecting...

The resource permitted studying the #RSV epidemiological scenario in the Canary Islands as part of RELECOV 2.0 network (relecov.isciii.es/es/) funded by the EU4H program of #EU_Commission, revealing reinfections, coinfections, & substitutions associated with resistance to mAbs.

relecov.isciii.es

RELECOV NETWORK

Relecov Network

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GitHub - genomicsITER/RSV

We developed the resource as part of the continuous respiratory virus surveillance efforts in the Canary Islands (github.com/genomicsITER...) & the code is publicly available at

github.com

Contribute to genomicsITER/RSV development by creating an account on GitHub.

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We present a full workflow, from sample processing to lineage classification, for RSV whole-genome sequencing adapted for #illumina and #nanopore and showing high concordance in clinical samples from two #RSV seasons.

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Genomic surveillance of #RSV is key to identify & monitor circulating lineages associated changes in transmission, severity, & treatment resistance. Few protocols exist for this purpose and most target only specific regions.

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Respiratory syncytial virus #RSV is the leading cause of acute lower respiratory tract infections in children <2 years. It can also severely affect adults. Since the introduction of a prophylactic mAbs treatment in Spain, resistant #RSV lineages have been reported.

Kudos Eva Suarez-Pajes for leading this work, which has been possible to our collaborators and funders: @isciiisalud.bsky.social #CIBER @innovaciontfe.bsky.social #ITER #FIISC #ACIISI

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In addition, the polygenic component of plasminogen activator inhibitor-1 (PAI-1) levels could also explain ICU mortality in our study.

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We analyzed serum and genotype data from different time points after sepsis diagnosis and identified 27 significant genetic loci & prioritized 56 genes. Among these, our whole-exome sequencing studies identified PTPRD as a novel #ARDS gene.

In brief, we conducted a proteogenomic approach by leveraging genome-wide association study (GWAS) and multi-trait analyses to assess host genetic factors governing protein levels and uncover novel #ARDS genes.

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Protein-based genomic analysis for the identification of risk loci associated with acute respiratory distress syndrome

Identifying host genetic determinants of protein levels in patients with sepsis could also assist in revealing novel #ARDS genes. To evaluate this, we evaluated 10 circulating proteins that may serve as #ARDS biomarkers in a new study (preprint): www.medrxiv.org/content/10.6...

medrxiv.org

Background Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that requires admission to an intensive care unit (ICU). Sepsis is one of the leading causes of ARDS and unde...

Acute respiratory distress syndrome #ARDS is a critical condition characterized by respiratory failure, an acute inflammatory response, and the development of non-cardiogenic pulmonary edema. Sepsis is one of the leading causes of #ARDS and has a high mortality ICUs.