Karin Kassahn

Karin Kassahn

School of Biomedicine

Faculty of Health and Medical Sciences

Qualifications: PhD, FFSc Research (RCPA)
Selected appointments: Head of Technology Advancement Unit (1/2013), SA Pathology
Affiliate Associate Professor, Adelaide Medical School, The University of Adelaide
Specialties: Clinical genomics, clinical bioinformatics, diagnostics, policy development and standards.

Associate Professor Karin Kassahn is a Clinical Scientist and Head of Technology Advancement at SA Pathology and Affiliate Associate Professor in the Adelaide Medical School at the University of Adelaide. Karin has been integral to introducing genomics and clinical bioinformatics into routine clinical care across the germline, cancer, paediatric and adult settings. She oversees the development and validation of genomic tests for diagnostic use and provides leadership in day-to-day service delivery. Karin is a national leader in the integration of genomics in pathology and provides expert advice on strategic directions, policies and standards for clinical genomics and bioinformatics both locally and nationally. She holds committee positions within the NATA Accreditation Advisory Committee for Life Sciences and the RCPA Faculty of Science Committee. She contributes to teaching within the The University of Adelaide and through the Royal College of Pathologists of Australasia. Karin is passionate about translational research. She has a research background in bioinformatics, cancer genomics and population biology. She was an active member of the International Cancer Genome Consortium where her research focused on mutation profiling of pancreatic cancers and more recently an active member of several Australian Genomics working groups and projects. She was awarded a PhD in 2007 in comparative genomics and bioinformatics. Karin is CI of an existing project and now recently funded MRFF Genomics Health Futures Mission (GHFM) national study to identify genetic causes of perinatal death (in collaboration with the Broad Institute).

My research interests are in the application of genomics and clinical bioinformatics in clinical translational research and diagnostics. A current focus of research is the application of genomic and multi-omics methods to newborn screening. Another research focus is genomics for prenatal management and for the identification of the causes of perinatal death. Another interest is the development of improved e-ordering solutions to guide and improve the requesting of genomic testing, spanning from rare disease to cancer. In my clinical role at SA Pathology, my group provides genomics and bioinformatics analyses as part of our clinical diagnostics and pathology service. I am an active member of the Australian Genomics national collaborative network to mainstream genomics in health care and the Genomic Screening Consortium for Australian Newborns (GenScan) and the International Consortium for Newborn Sequencing (ICoNS).

  • Appointments

    Date Position Institution name
    2021 - ongoing Affiliate Associate Professor University of Adelaide
    2013 - ongoing Head, Technology Advancement SA Pathology
  • Awards and Achievements

    Date Type Title Institution Name Country Amount
    2023 Award Clinical Liaison Award SA Pathology Australia -
    2016 Award Nomination Women in Technology Award Science Category - - -
    2015 Award Excellence in Non-clinical Services SA Health - -
  • Language Competencies

    Language Competency
    German Can read, write and understand spoken
  • Education

    Date Institution name Country Title
    2003 - 2007 James Cook University Australia PhD
    2002 - 2002 The University of Adelaide Australia B.Sc.(Hons)
  • Research Interests

MRFF 2017145: Newborn screening model using Integrated multi-omics in South Australia (NewbornsInSA). Principal Investigator. 2023 - 2025.

MRFF 2008820: A national large scale automated reanalysis program to increase rare disease diagnosis. Co-Investigator. 

NHMRC 2021396: Genomic Autopsy of Pregnancy loss Study (GAPS): genomic investigations to help solve unexplained pregnancy loss at all gestations. Co-Investigator.

MRFF: PreGen: Filling the Gap – Antenatal Genomics and Newborn Care research project

NHMRC Investigator Grant. APP1194633. Diagnosing hereditary myopathies and dystrophies with RNA sequencing: translating research innovations into diagnostic practice.  Associate Investigator.

NHMRC Project Grant APP1164601. Germline mutations in familial hematopoietic malignancies identifies new pan-cancer predisposition genes and may alter clinical decision making, including for known cancer genes. 

NHMRC. APP1105719. Genetic autopsy of perinatal death: diagnosis and discovery by Whole Genome Sequencing. 

NHMRC Targeted Call for Research into Genomics. APP1113531. Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance. . Associate Investigator. Project 2. A national approach to data federation and analysis.


Precision Medicine HLTH SCI 2108 

RCPA Short Course in Genomics

  • Other Supervision Activities

    Date Role Research Topic Location Program Supervision Type Student Load Student Name
    2020 - 2020 Co-Supervisor The epidemiology of hereditary pancreatitis in South Australia The University of Adelaide - Honours - Danny Wu
    2014 - 2020 Co-Supervisor The genomic autopsy: diagnosis and discovery through whole exome and whole genome sequencing University of South Australia - Doctorate - Alicia Byrne
  • Committee Memberships

    Date Role Committee Institution Country
    2020 - 2022 Member NATA Accreditation Advisory Committee NATA Australia
    2018 - 2022 Member Faculty of Science Committee Royal College of Pathologists of Australasia Australia
  • Memberships

    Date Role Membership Country
    2015 - ongoing Member Human Genetics Society of Australasia -
    2014 - ongoing - Fellow Faculty of Science (RCPA) -

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