Associate Professor Sarah Kummerfeld
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.
- 2023European journal of human genetics : EJHG10.1038/s41431-022-01251-2
Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection.
- 2022American journal of human genetics10.1016/j.ajhg.2022.11.013
Low disease risk and penetrance in Leber hereditary optic neuropathy.
- 2022Frontiers in psychiatry10.3389/fpsyt.2022.904091
Genetic Pathways Associated With Sleep Problems in Children With Autism Spectrum Disorder.
- 2022Internal medicine journal10.1111/imj.15719
Pharmacogenomic testing: perception of clinical utility, enablers and barriers to adoption in Australian hospitals.
- 2021Genome medicine10.1186/s13073-021-00841-x
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.