People

Francesco has a M.Sc. in Medical Biotechnology and a Ph.D. in Experimental Pathology. He developed an expertise in Bioinformatics, Genomics and Statistical Genetics.

He previously worked at UCL, where he first developed the analysis pipelines for UCL Genomics, the NGS facility of the Campus. He then led the Bioinformatics at the Centre for Translational Genomics, a partnership between ULC Institute of Child Health and Great Ormond Street Hospital. He moved to Aarhus University as Associate Professor of Genomics and Bioinformatics, where he led the Bioinformatics analyses in Bipolar Disorder and Schizophrenia for the iPSYCH consortium.

Later, he worked for two years in QIAGEN Bioinformatics, as part of the Global Product Management team for the CLC portfolio.

Before joining the University of Pavia as Associate Professor of Bioinformatics, Francesco worked as Head of Bioinformatics for the Medicines and Healthcare products Regulatory Agency in UK.

More information on Francesco’s personal website: http://lescai.eu

Mariangela developed an interest in the highly interdisciplinary field of Bioinformatics during her graduate studies in Biological Sciences. She holds a PhD in Bioinformatics, focusing on the investigation of mitochondrial variations in human health and disease, by NGS data. After completing her PhD, she moved to ITB-CNR, working on a metabarcoding project. In the following years, she worked as a postdoc fellow at the LNCIB and at the DSV, University of Trieste, where she was involved in the characterization of patient-derived tumour tissues and organoids, with omics data. She is really fascinated with the complexity of the information encoded by the Human genome and still to be unmasked through the analysis of large-scale genomic datasets.

Eugenio is a Ph.D. student in the Genetics, Molecular and Cell Biology Doctoral programme.

He has a Master of Science in Molecular Biology and Genetics, which he combines with the experience as a software developer, providing him with a valuable perspective at the intersection between molecular biology and computer science.

After graduation, he has lived, worked, and studied abroad. He discovered a passion for coding and software development while living in Japan, which eventually led him to work for a software company.

His Ph.D. project, entitled “Genome Bioinformatics for in-silico Medicine and Omics Data”, focuses on using deep learning techniques to analyse genomic data and identify patterns associated with complex phenotypes. By applying cutting-edge bioinformatics and machine learning methods, he aims to contribute to the development of more precise and personalised medical treatments.

Simone has a B.Sc. in Biotechnology, and his studies focused on the application of Biotechnology to medicine. His Degree is characterised by a strong focus on several biological disciplines, especially in Genetics, Biochemistry and Molecular Biology. Simone has discovered an interest in Bioinformatics, because it offers an opportunity to integrate the expertise of different disciplines. For this reason, he decided to pursue an internship in this field and submit a Bachelor thesis on this subject.

His Bachelor project was focused on developing a Nextflow pipeline to study horizontal gene transfer of different microbial species into the Human genome, with a title “hgtseq: a standard pipeline to study horizontal gene transfer“. He is now involved in the application of this pipeline on large Human sequencing studies.

Lorenzo has a M.Sc. in Molecular Biology and Genetics and soon a Ph.D. in Genetics, Molecular and Cellular Biology. His studies were focused on the analysis of repetitive elements in the human and mammalian genomes through the integration of cellular, molecular biology and bioinformatics techniques. During this period, he was really fascinated by the study of biology through the decoding of the information hidden in high-throughput data and he developed a strong interest in computer science.

In 2024, he joined the Computational Genomics laboratory at the University of Pavia, where he works on Alzheimer’s Disease (AD). His project entitled “Omic markers in circulating monocytes for early diagnosis of Alzheimer disease” is focused on the study of prognostic markers of AD utilizing a multi-omics approach, with the final goal of improving the existing diagnostic strategies.

Davide Bagordo has a Bachelor degree in Biotechnology, awarded at the University of Pavia. He graduated in the Master’s Degree in “Advanced Biotechnology”, with an internship in our Lab. His thesis project, entitled “Computational Genomics approaches to study rare-variants mutational load in Joubert Syndrome“, focused on the mutational load of protein-truncating variants (PTV) in the Joubert Syndrome.

He joined the Computational Genomics laboratory in 2024, to work on a project entitled “Computational Genomics strategies for the analysis and in-silico design of immunotherapies”, focused on the development of pipelines for the characterisation of the adaptive immune receptor repertoire with innovative methods. 

Cezar Grigorean is a Biology student, currently attending the final year of his Bachelor degree. The Degree is characterised by a strong focus on several biological disciplines, especially Genetics, Biochemistry and Molecular Biology. Cezar has always been interested in Informatics: for this reason, he decided to combine this subject with his studies and pursue an internship in Bioinformatics, thus applying Data Science to the study of Genomics.

His internship project is aimed at developing a Shiny app to filter and prioritise genetic variants in VCF files, and ease some of the most pressing challenges professionals in medical genetics experience, when interpreting NGS results for clinical purposes.

Alessandro is a third-year Biotechnology student with a strong interest for informatics. Since November 2023, he has been preparing to join the Computational Genomics Lab, where he is currently working on his thesis project. His research focuses on developing a scoring method to prioritise genetic variants based on their expression in tissues affected by disease.

The goal of the project is to create a tool that narrows down the list of genetic variants to be investigated for clinical diagnosis, helping to streamline the diagnostic process and improve precision in identifying disease-related variants.

Said Ahmed is a final-year Biotechnology student with a background in the IT industry, where he developed a strong passion for the intersection of informatics and biology. To bridge his professional experience with his academic studies, Said decided to pursue an internship in bioinformatics.

During his internship, Said’s project focuses on simulating human genomic data, encompassing both main-effect and epistatic variants associated with pathological phenotypes. The aim is to generate realistic patient genotype datasets that closely reflect real-world data in terms of allele frequency, variant count, haplotype structure, and variant annotation. These datasets will be used to evaluate deep learning models designed to detect complex interactions between genetic variants.

Gerardo Acquaviva has a Bachelor degree in Biological Sciences awarded by the University of Bologna, with a thesis in microbiology entitled “The molecular mechanisms underlying the development of microbial biofilms”.

He graduated in the Master’s degree in “Molecular biology and genetics” at the university of Pavia with an internship in Bioinformatics, a research area which has captured his interest.

His internship project focused on the use of network analysis methods, to uncover genetic determinants underlying inflammatory mechanisms in common to different high-impact diseases.