Karin Kassahn

Karin Kassahn

Adelaide Medical School

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.

Dr Karin Kassahn is a Clinical Scientist and mid-career researcher and 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). Karin has published 43 scientific articles with 7383 google scholar citations (h-index 28).

My research interests are in clinical bioinformatics and understanding the genetic basis of disease across a broad range of disorders, spanning from rare disease to cancer. We use genomics and bioinformatics tools to improve diagnosis and help patient management. I am an active member of the Australian Genomics national collaborative network to mainstream genomics in health care.

  • Appointments

    Date Position Institution name
    2021 Affiliate Associate Professor Adelaide Medical School, The University of Adelaide
    2013 Head, Technology Advancement Unit SA Pathology
  • Awards and Achievements

    Date Type Title Institution Name Country Amount
    2020 Award Nomination 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

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 - ongoing Member NATA Accreditation Advisory Committee NATA Australia
    2018 - ongoing 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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