Staff

Martina Esposito

Assegnista/Borsista
E-Mail

martinaesposito1@cnr.it

PHONE

NA

LOCATION

Segrate

ROOM (floor/number)

7/24

I am a research fellow specializing in genome-wide association studies (GWAS) and next-generation sequencing (NGS) data analysis in the field of pharmacogenomics and precision oncology for comprehensive investigation of genomic determinants underlying individual differences in disease risk and drug response. My academic background combines pharmaceutical sciences with computational biology: I hold a degree in Pharmaceutical Chemistry and Technology, followed by a second-level master’s degree in Bioinformatics and Data Science. Since 2022, I have been part of the research group led by Francesca Colombo, where I have developed solid expertise in biostatistics and post-GWAS analyses. My research focuses on identifying germline variants that influence cancer susceptibility, prognosis, and treatment response, with particular emphasis on lung cancer. I have contributed to pharmacogenomic research on SARS-CoV-2 vaccine response, investigating genetic determinants of variability in immune responses, and to the pharmacogenomics of opioids, aiming to elucidate genetic factors influencing analgesic response and the risk of adverse effects, supporting more personalized and safer pain management strategies. I have also contributed to the pharmacogenomics of immune checkpoint inhibitors, focusing on the identification of genetic predictors of treatment efficacy and immune-related adverse events in patients with lung cancer. Currently, I am involved in the REGINA project (REte di Genomica Integrata per Nuove Applicazioni in medicina di precisione), where I conduct variant analysis and mutational burden assessment of rare and ultra-rare variants in patients with Multiple System Atrophy (MSA), with the aim of identifying genetic determinants associated with disease onset and its manifestation in cerebellar (MSA-C) or parkinsonian (MSA-P) forms.

Genome-wide association studies (GWAS) for the identification of germline variants associated with diseases, other binary phenotypes and quantitative traits.

Long-read sequencing analyses in genomic studies (transcriptional isoforms, complex splicing and structural variants)

Transcriptomic analysis of cancer cells, stem cells, organoids, human and murine tissues in disease models

Identification of genetic and regulatory variants influencing drug response and adverse events

Application of advanced statistical methods, machine learning, deep learning, explainable AI (XAI), and data mining for predicting pathological mechanisms, identifying disease biomarkers and supporting patient stratification.

Development, application and optimization of automated pipelines for the analysis of genomics, epigenomics and transcriptomics data for large-scale studies.