Dr Rausell is an engineer with a PhD in bioinformatics and an Executive Master degree in Artificial Intelligence. He is appointed as associate professor in bioinformatics at the Université Paris Cité and as hospital practitioner at the "Service de Médecine Génomique des Maladies Rares" of the Hospital Necker for Sick Children (APHP). As part of his hospital duties, Dr. Rausell serves as data scientist and Machine Learning practitioner at the SeqOIA Laboratory, one of the two national genomic sequencing laboratories of the France Genomic Medicine 2025 governmental plan. On the research side, Dr Rausell leads the Clinical Bioinformatics Laboratory of the Imagine Institute, where he develops bioinformatics tools and machine-learning approaches with a clinical focus in two main areas of current research in rare genetic diseases: 1) Computational assessment of human genetic variants, by contributing methods to predict disease-causing variants, their integration in Personalized Medicine pipelines and their application to exome/genome sequencing projects currently ongoing at the Imagine Institute and the Necker Hospital. And 2) Analyses of high-dimensional single-cell omics data in functional genomics studies addressing intra-individual cell heterogeneity and how it relates to rare paediatric diseases, including developmental disorders, immune deficiencies and ciliopathies. These analyses are being performed in collaboration with a diverse range of clinical departments, reference disease centers, and experimental research groups. In addition, Dr. Rausell coordinates the integrated Care and Research Program (iCARP) in Computational Decision Support Systems of the Imagine Institute, whose aims are : (a) the identification of markers with a clinical value for diagnosis, prognosis and treatment, and (b) developing artificial intelligence tools to help decision-making at the clinics.https://www.institutimagine.org/en/RausellLabhttps://github.com/RausellLab/