Pablo Bartolucci

Proteogenomic analysis of 5,411 plasma proteins in sickle cell disease patients

The paper identifies 560 plasma protein quantitative trait loci (pQTL) in sickle cell disease patients and links them to HbF production through Mendelian randomization.

Genetic contribution to asthma informs acute chest syndrome pathophysiology and risk stratification

This study uses polygenic scores to show asthma genetics are linked to ACS recurrence risk, but not occurrence, and highlights the role of HbF in modulating this risk.

Additive Manufacturing of real-scale carotid artery models: The content-container interaction in sickle cell disease-related cerebral vasculopathy

This study develops an additively manufactured carotid artery model to simulate sickle cell disease vasculopathy, validated with clinical imaging and mechanosensitive cells.

Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results

This paper introduces the shortest reactional distance (SRD) metric to improve the biological interpretation of metabolite genome-wide association study (mGWAS) results by linking genes to metabolites based on metabolic pathway knowledge.

Variation and impact of polygenic hematological traits in monogenic sickle cell disease

The paper evaluates polygenic trait scores for hematological traits in sickle cell disease patients, finding limited predictive power for complications but significant associations for fetal hemoglobin.

Causal role of L-glutamine in sickle cell disease painful crises: a Mendelian randomization analysis

The paper uses Mendelian randomization to confirm a causal link between L-glutamine levels and reduced painful crises in sickle cell disease, while finding no significant causal relationships for other metabolites.