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Clinical Genetics

Prof. Dr. med. Pablo Villavicencio Lorini is the new FGW Professor for Clinical Genetics at the Brandenburg Medical School Theodor Fontane as of 1st January 2025. He is head of the first human genetics institute at the university hospital in Brandenburg.

The Institute of Clinical Genetics in Brandenburg an der Havel is one of the newest facilities at Brandenburg Medical School. Here, the basics of genetic research are combined with applied human genetic patient care in the sense of translational medicine.

Thanks to state-of-the-art technologies for next-generation sequencing and single-cell sequencing, the Institute at the Center for Translational Medicine offers an excellent platform for interdisciplinary research.

Prof. Dr. Pablo Villavicencio Lorini
Prof. Dr. Pablo Villavicencio Lorini
Head of the Professorship for Clinical Genetics
phone: +49 3381 21 82224

Location: MHB, Institute for Clinical Genetics, Gertrud-Piter-Platz 7, 14770 Brandenburg an der Havel

    Research

    Research Focus

    The professorship concentrates on research into genetic pathomechanisms of hereditary diseases and their clinical implications, with a particular focus on ageing research. The focus is on the following areas of human genetics:

    • Oncogenetics (in particular hereditary tumor dispositions)
    • Ophthalmogenetics (in particular degenerative diseases of the eye)
    • Neuroimmunogenetics (in particular CSF1R-associated leukoencephalopathies)
    • Developmental genetics (in particular with reference to the BMP signaling pathway and ciliopathies)
    Teaching

    For teaching purposes, application-related aspects of human genetics are integrated into the curricula of the FGW degree programs. The aim is to provide students with well-founded skills in dealing with modern human genetic diagnostic procedures and to illustrate their importance for personalized medicine.

    Publications

    Publications (Selection)

    1. Zachariae S et al. Calculating future 10-year breast cancer risks in risk-adapted surveillance: A method comparison and application in clinical practice. Cancer Prev Res (Phila). 2024 (PMID: 39575650) https://pubmed.ncbi.nlm.nih.gov/39575650
    2. Liu H et al. The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan. Autophagy. 2020 (PMID: 31795790) https://pubmed.ncbi.nlm.nih.gov/31795790
    3. Kraya T et al. Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids. Mol Genet Genomic Med. 2019 (PMID: 30729751) https://pubmed.ncbi.nlm.nih.gov/30729751
    4. Pfirrmann T et al. Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. Hum Mol Genet. 2015 (PMID: 25712132) https://pubmed.ncbi.nlm.nih.gov/25712132
    5. Villavicencio-Lorini P et al. Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. 2010 (PMID: 20458143) https://pubmed.ncbi.nlm.nih.gov/20458143/
    Team

    Dr. Kalpana Dhanuskodi, Research Associate (Technical Laboratory Manager)

    Cooperations
    • Prof. Dr. Haifa Kathrin Al-Ali, Krukenberg-Krebszentrum Halle (KKH), Universitätsmedizin Halle
    • Prof. Dr. med. Simone Hettmer, Kinderonkologisches Zentrum, Universitätsmedizin Halle
    • Dr. Susanne Barrot, Deutsches Konsortium für Familiären Brust- und Eierstockkrebs, Zentrum Universitätsmedizin Halle
    • Dr. Danny Misiak, Bioinformatik, Zentrum für Medizinische Grundlagenforschung, Universitätsmedizin Halle
    • Prof. Dr. Thorsten Pfirrmann, Biochemie, Health and Medical University, Potsdam
    • Prof. Dr. Claudia Grünauer-Kloevekorn, Praxisklinik Augenärzte am Markt, Halle
    • Dr. Andrea Kindermann, Institut für Anatomie und Zellbiologie, Universitätsmedizin Halle
    • Dr. Matt Fuszard, Core Facility Proteomic Mass Spectrometry, Martin-Luther-Universität, Halle-Wittenberg
    • Dr. Matthias Jung, Stammzellbiologie, Institut für Physiologische Chemie, Martin-Luther-Universität, Halle-Wittenberg
    • Paula Michel & Dr. Thomas Neumann, Facharztzentrum für Pädiatrie und Humangenetik, MVZ UKH gGmbH, Halle
    • PD Dr. Torsten Kraya, Klinik für Neurologie, Klinikum St. Georg, Leipzig
    • Prof. Dr. Matthias Schroeter, Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig
    • Dr. Dietrich Stoevesandt, Radiologie & Dorothea Erxleben Lernzentrum Halle (DELH)

    Joint faculty
    The University of Potsdam, the Brandenburg Medical School Theodor Fontane and the Brandenburg Technical University Cottbus-Senftenberg