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Sarah Kummerfeld

Associate Professor Sarah Kummerfeld

Role
Chief Scientific Officer

Associate Professor Sarah Kummerfeld is the Director of Data Science at the Garvan Institute of Medical Research. She uses genomics to understand human disease and translate findings into clinical diagnostics and treatments. Sarah completed her PhD in Computational Biology at the University of Cambridge, working on protein structure and function prediction. Her postdoctoral research at Stanford University studied the molecular basis of human ageing.

Sarah has worked both in academia and industry, including 10 years as a scientist at Genentech, based in the San Francisco Bay Area. At Genentech, she used large-scale genomics approaches to understand why only some patients respond to treatment and to identify diagnostic biomarkers that predict response to particular drugs. Sarah is dedicated to bringing applying advances in genomics research to benefit patients.

Selected publications

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  • 2024
    The EMBO Journal10.1038/s44318-024-00210-5

    Human genomic DNA is widely interspersed with i-motif structures.

    Cristian David Peña Martinez, Mahdi Zeraati, Romain Rouet, Ohan Mazigi, Jake Y Henry, Brian Gloss, Jessica A Kretzmann, Cameron W Evans, Emanuela Ruggiero, Irene Zanin, Maja Marušič, Janez Plavec, Sara N Richter, Tracy M Bryan, Nicole M Smith, Marcel E Dinger, Sarah Kummerfeld, Daniel Christ
  • 2024
    Parkinsonism & Related Disorders10.1016/j.parkreldis.2024.107010

    Genome sequencing reanalysis increases the diagnostic yield in dystonia.

    Avi Fellner, Gurusidheshwar M Wali, Neil Mahant, Bianca R Grosz, Melina Ellis, Ramesh K Narayanan, Karl Ng, Ryan L Davis, Michel C Tchan, Katya Kotschet, Dennis Yeow, Laura I Rudaks, Sue-Faye Siow, Gautam Wali, Con Yiannikas, Matthew Hobbs, Joseph Copty, Michael Geaghan, Paul Darveniza, Christina Liang, Laura J Williams, Florence C F Chang, Hugo Morales-Briceño, Stephen Tisch, Michael Hayes, Scott Whyte, Sarah Kummerfeld, Marina L Kennerson, Mark J Cowley, Victor S C Fung, Carolyn M Sue, Kishore R Kumar
  • 2024
    Nature Communications10.1038/s41467-024-46456-9

    A universal molecular control for DNA, mRNA and protein expression.

    Helen M Gunter, Scott E Youlten, Andre L M Reis, Tim McCubbin, Bindu Swapna Madala, Ted Wong, Igor Stevanovski, Arcadi Cipponi, Ira W Deveson, Nadia S Santini, Sarah Kummerfeld, Peter I Croucher, Esteban Marcellin, Tim R Mercer
  • 2023
    Cancers10.3390/cancers16010012

    Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision Medicine.

    Smadar Kahana-Edwin, James Torpy, Lucy E Cain, Anna Mullins, Geoffrey McCowage, Sarah E Woodfield, Sanjeev A Vasudevan, Dan P T Shea, Andre E Minoche, Andres F Espinoza, Sarah Kummerfeld, Leonard D Goldstein, Jonathan Karpelowsky
  • 2023
    European Urology Open Science10.1016/j.euros.2023.08.007

    Circulating Tumour DNA Biomarkers Associated with Outcomes in Metastatic Prostate Cancer Treated with Lutetium-177-PSMA-617.

    Megan Crumbaker, Leonard D Goldstein, David H Murray, Jiang Tao, Sarennya Pathmanandavel, Nicky Boulter, Lalith Ratnayake, Anthony M Joshua, Sarah Kummerfeld, Louise Emmett