General description: The Medical University of Graz (MUG) is associated with the University Clinics of Graz, with 1600 beds and 78000 patients/ year. Cancer care is provided by an ISO-certified Comprehensive Cancer Center, which is member of OECI. The Diagnostic and Research Institute of Human Genetics is ISO 15189 accredited. MUG teaches 4300 students and offers 2 PhD Programs and 3 Doctoral Colleges.
Expertise: Medical care, research, education and training, biobanking, biomarker development, quality management and regulatory affairs.
Facilities: The Diagnostics and research Institutes of Pathology and Human Genetics operate 2 Illumina MiSeq and 2 Illumina NextSeq, 2x Ion Torrent S5XL + Ion Chef + 3x Torrent Server as Cluster + Ion Reporter, and Qiagen sequencing platforms (for research only), and perform NGS diagnostic 4.596 tests per year. Furthermore MUG operates ISO9001:2000-certified research core facilities equipped with latest morphological technologies (Laser capture microdissection, LSM, electron microscopy), ISO-certified RNA and DNA analysis (real-time PCR, DNA microarrays, NGS-sequencing) as well as proteomics and metabolomics (lipidomics) platforms.
SPIDIA4P - SPIDIA for Personalized Medicine - Standardisation of generic Pre-analytical procedures for Invitro DIAgnostics for Personalized Medicine, http://www.spidia.eu
ERINHA-Advance - Advancing European Research Infrastructure on highly pathogenic agents, https://cordis.europa.eu/project/rcn/219245/factsheet/en
EOSC-Life - European Open Science Cloud-Life, https://cordis.europa.eu/project/rcn/219199/factsheet/en
CORBEL - Coordinated Research Infrastructures Building Enduring Life-science Services, https://www.corbel-project.eu/home.html
CANCER-ID, a project funded by the Innovative Medicines Joint Undertaking (IMI JU): aiming at the establishment of standard protocols for and clinical validation of blood-based biomarkers https://www.cancer-id.eu/
Role in the project
MUG contributes ample experience in NGS-based diagnostics of cancer and rare diseases. It is coordinator of the project leads WP1 and will be lead procurer. Furthermore, MUG contributes to several tasks in all WPs, particularly in WP5.
Kurt Zatloukal (male), M.D. is Professor of Pathology and Director of the Diagnostic and Research Center for Molecular BioMedicine at MUG and is director of the Austrian national node BBMRI.at of the European biobanking and biomolecular research infrastructure (BBMRI-ERIC). He was director of the Christian Doppler Laboratory for Biospecimen Research and Biobanking Technologies. His research focusses on molecular pathology of diseases as well as pre-analytical requirements for – omics technologies. He is member of the Austrian Standards Institute and delegate in CEN and ISO Technical Committees, contributing to the development of new European standards and norms for pre-analytical processing of samples for molecular testing. He is member of the scientific board for genetic testing and human gene therapy at the Austrian Ministry of Health. Moreover, he contributed to the regulations for genetic testing of the Austrian Gene Technology Law, and is Member of the Academia Europaea and has published 228 scientific papers and was co-inventor of 25 patent applications.
Michael Speicher (male), M.D. Professor of Human Genetics and Chair of the Diagnostic and Research Institute of Human Genetics at the Diagnostic and Research Center for Molecular BioMedicine at the MUG. He was president of the Austrian Society of Human Genetics for 6 years and is at present vice-president of this society. He is member of the scientific board for genetic testing and human gene therapy at the Austrian Ministry of Health. Furthermore, he is member of the Supreme Sanitary Council (Oberster Sanitätsrat; OSR), a medical-scientific committee to advise the Ministry of Health of Austria on medical issues. In relation to his research activities, he studied for many years chromosome structure and morphology using various molecular cytogenetic approaches. His current research is focused on hereditary tumor syndromes, the contribution of germline and somatic genomic variants to cancer, and liquid biopsies. His research credentials can be viewed under his ResearcherID (B-5362-2013) or his ORCID-number (http://orcid.org/0000-0003-0105-955X).
Main publications and patents
Groelz D, Viertler C, Pabst D, Dettmann N, Zatloukal K. Impact of storage conditions on the quality of nucleic acids in paraffin embedded tissues. PLoS One. 2018 Sep 7;13(9):e0203608.
Holub P, Kohlmayer F, Prasser F, Mayrhofer MT, Schlünder I, Martin GM, Casati S, Koumakis L, Wutte A, Kozera Ł, Strapagiel D, Anton G, Zanetti G, Sezerman OU, Mendy M, Valík D, Lavitrano M, Dagher G, Zatloukal K, van Ommen GB, Litton JE. Enhancing Reuse of Data and Biological Material in Medical Research: From FAIR to FAIR-Health. Biopreserv Biobank. 2018 Apr;16(2):97- 105
van Gool AJ, Bietrix F, Caldenhoven E, Zatloukal K, Scherer A, Litton JE, Meijer G, Blomberg N, Smith A, Mons B, Heringa J, Koot WJ, Smit MJ, Hajduch M, Rijnders T, Ussi A. Bridging the translational innovation gap through good biomarker practice. Nat Rev Drug Discov. 2017 Sep;16(9):587-588.
Kashofer K, Viertler C, Pichler M, Zatloukal K. Quality control of RNA preservation and extraction from paraffin-embedded tissue: implications for RT-PCR and microarray analysis. PLoS One. 2013 Jul 31;8(7):e70714.
Timmermann B, Kerick M, Roehr C, Fischer A, Isau M, Boerno ST, Wunderlich A, Barmeyer C, Seemann P, Koenig J, Lappe M, Kuss AW, Garshasbi M, Bertram L, Trappe K, Werber M, Herrmann BG, Zatloukal K, Lehrach H, Schweiger MR. Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS One. 2010 Dec 22;5(12):e15661.
Heitzer E, Haque IS, Roberts CES, Speicher MR. Current and future perspectives of liquid biopsies in genomics-driven oncology. Nat Rev Genet 2019 20(2):71-88.
Ulz P, Thallinger GG, Auer M, Graf R, Kashofer K, Jahn SW, Abete L, Pristauz G, Petru E, Geigl JB, Heitzer E, Speicher MR. Inferring expressed genes by whole-genome sequencing of plasma DNA. Nat Genet 2016 48:1273-8
Ulz P, Belic J, Graf R, Auer M, Lafer I, Fischereder K, Webersinke G, Pummer K, Augustin H, Pichler M, Hoefler G, Bauernhofer T, Geigl JB, Heitzer E, Speicher MR. Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer. Nat Commun 2016 7:12008
Ulz P, Heitzer E, Speicher MR. Co-occurrence of MYC amplification and TP53 mutations in human cancer. Nat Genet 2016 48:104-6
Mlecnik B, Bindea G, Angell HK, Sasso MS, Obenauf AC, Fredriksen T, Lafontaine L, Bilocq AM, Kirilovsky A, Tosolini M, Waldner M, Berger A, Fridman WH, Rafii A, Valge-Archer V, Pagès F, Speicher MR, Galon J. Functional network pipeline reveals genetic determinants associated with in situ lymphocyte proliferation and survival of cancer patients. Sci Transl Med 2014 6(228):228ra37
ISO 20166-3:2018, Molecular in vitro diagnostic examinations – Specifications for pre-examination processes for formalin-fixed and paraffin-embedded (FFPE) tissue – Part 3: Isolated DNA (project leader)