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 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.

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

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