Research area
Bioinformatics and computational biology

STRUCTURAL BIOINFORMATICS
Research
We investigate protein structure, function, evolution, and interactions to understand biological processes, particularly those linked to disease.
We are deeply committed to developing bioinformatics tools and databases to support the research community, enhancing scientific investigations and fostering open, collaborative advancements in science.
Our work integrates machine learning (ML) approaches, including convolutional neural networks (CNNs) and embeddings, to study amyloid-forming proteins, protein aggregation, and neurodegenerative diseases. We analyze RNA-binding proteins and protein-RNA interactions in gene regulation and employ graph convolutional neural networks (GCNNs) to identify ALS-associated genes and potential biomarkers by integrating gene expression with protein-protein interaction (PPI) networks. Our adaptable methods advance precision medicine across various diseases. Additionally, we investigate protein aggregation and amyloidosis—hallmarks of neurodegenerative disorders—using deep learning and homology-based annotations. Our research extends to intrinsically disordered and liquid-liquid phase separation (LLPS) proteins within membrane-less organelles (MLOs), focusing on disease-related mutations. Using protein language models (pLMs), we generate embeddings for wild-type and mutated sequences to identify novel disease-causing mutations in LLPS proteins.
Skills & tools
We have developed a comprehensive suite of databases and computational tools for the analysis of proteins and nucleic acids, facilitating research across various biological domains. Our expertise spans artificial intelligence (AI), programming, big data analysis, and other computational techniques. Combined with deep biological knowledge, we design and implement solutions that not only generate insights but also contextualize results within a biological framework, ensuring meaningful interpretations.
Collaboration interests
- Disease-related data provision and analysis
- Amyloidogenesis, protein aggregation, and their role in disease
- Liquid-liquid phase separation (LLPS) proteins and their biological effects, particularly in disease contexts
- Protein structure, sequence, and dynamics
Selected publications
- ORTI, Fernando; FERNÁNDEZ, María Laura; MARINO‐BUSLJE, Cristina. MLOsMetaDB, a meta‐database to centralize the information on liquid–liquid phase separation proteins and membraneless organelles. Protein Science, 2024, vol. 33, no 1, p. e4858.
- NAVARRO, Alvaro M., et al. DisPhaseDB: An integrative database of diseases related variations in liquid–liquid phase separation proteins. Computational and structural biotechnology journal, 2022, vol. 20, p. 2551-2557.
- MARTÍNEZ-PÉREZ, Elizabeth; MOLINA-VILA, Miguel Angel; MARINO-BUSLJE, Cristina. Panels and models for accurate prediction of tumor mutation burden in tumor samples. NPJ Precision Oncology, 2021, vol. 5, no 1, p. 31.

Principal investigator
Cristina Marino Buslje, PhD
- protein aggregation
- amyloidosis
- RNA-binding proteins
- liquid-liquid phase separation
- structural bioinformatics