Sam is a Variant Curator in the Rare Disease Analysis team with a research background in neuromuscular disease diagnostics and splicing variant analysis. Sam’s primary focus is on the analysis of genomic data from families with rare diseases, with the goal of finding a genetic diagnosis for these families.
The Centre for Population Genomics is a joint national initiative of Garvan Institute of Medical Research and the Murdoch Children’s Research Institute. The Institutes are national leaders in genomic research, with complementary strengths spanning large-scale genomics, data science, population health, and clinical impact.
The Centre for Population Genomics values diversity in our team and our work. We believe that including all human diversity in genomic research will empower medical care that benefits everyone.
We pay our respect to all Aboriginal and Torres Strait Islander cultures and to their Elders past and present. We gratefully accept the invitation in the Uluru Statement from the Heart “to walk with us in a movement of the Australian people for a better future”.
