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Research
The primary aim of the Division of Human Genetics is clarifying the genetic determinants of health and disease in humans, with special  focus on rare diseases that are inherited as monogenic traits, and on genetic variants that have a major  impact on human biology and substantial disease relevance. This aim is achieved by combining comprehensive patient  services and expertise in clinical genetics, molecular genetics and cytogenetics with basic research. The institute includes  the Centre for Medical Genetics Innsbruck which provides medical genetic services for the  entire  Western Austria with  extensive outpatient clinics and inpatient consultation in Innsbruck and several regional hospitals. The diagnostic  laboratories cover all relevant methods for DNA, RNA and chromosome analysis including classical cytogenetics,  fluorescence-in-situ hybridization (FISH), DNA-Array (molecular karyotyping), tumour cytogenetics, Sanger sequencing  for a large number of individual  genes, massively parallel (“next generation”) sequencing - both panel and clinical exome - , multiplex-ligation-dependent probe amplification (MLPA), methylation and imprinting analyses, fragment length typing and Southern Blot for microsatellite repeat analyses, and others. Due to the close link with the large basic research unit,  interesting observations or unclarified cases may be directly transferred into further investigations on a research basis.  The diagnostic laboratories are equipped for a wide range of relevant cell biology techniques with a special focus on DNA and RNA analyses and the functional analysis of genetic alterations. The division is dedicated to interdisciplinary  collaboration and is happy to carry out both diagnostic tests and research investigations for a large number of hospital  centres in Innsbruck and elsewhere.  Research foci on a glance: Genetic causes of rare diseases, including: Developmental disorders, intellectual disability and dysmorphic syndromes Inherited metabolic diseases Genetic skin diseases Genetic disease of the teeth and periodontal tissue Genetic causes of tumours and tumour dispositions, including: Inherited cancer disposition syndromes Breast and ovarian cancer Hamartomatous tumours Cytogenetics of haematological malignancies Transcription and transcript processing of mitochondrial DNA (mtDNA) Transcription and transcript processing of nuclear genes, in particular splice mechanisms New methods of genetic laboratory diagnosis, mutation databases, molecular genetic quality control

Individual Research Groups and Projects

Mitochondrial RNA maturation and its diseases Johannes Zschocke, Albert Amberger, Andrea Deutschmann Cancer Genetics Katharina Wimmer, Julia Vogt, Johannes Zschocke Genetic skin diseases Hans Christian Hennies, Katja Eckl Ectodermal diseases Johannes Zschocke, Anna Schossig, Robert Gruber Membrane lipid metabolism of organelles and cells Keller Research Group Genetisch bedingte Entwicklungsstörungen und Syndrome, Autozygotiekartierungen Christine Fauth, Ana Spreiz, Birgit Krabichler Mechanisms of Chromosomal Disorders Dieter Kotzot Tumorzytogenetik Irmgard Verdorfer Scientists, students and technicans in the research laboratories Postdoc Dr. rer. nat. Albert Amberger (Bereichsleitung Forschung) Priv.-Doz. Dr. rer. nat. Hans-Christian Hennies (Bereichsleitung Dermatogenetik) Dr. rer. nat. Markus A. Keller Doktoranden Rebecca Gröbner, MSc. Gregor Ömer, MSc. Technische Mitarbeiterinnen und Mitarbeiter Pia Traunfellner Studenten und Studentinnen Emily Daniliants Rebecca Gamper Oliver Grieb Stanley Hacker Katharina Lackner Katharina Muigg Rita Redolfi Kontaktinformationen aller MitarbeiterInnen finden Sie [hier]
Forschung / Research Lehre Mitarbeiterinnen und Mitarbeiter Formulare und Dokumente Kontakt / Anfahrt Sprechstunden Konsile Molekulargenetik Zytogenetik Forschung / Research