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Delivering the potential of genomic medicine

Ben Halliday is committed to unlocking and delivering the potential of genomic medicine for the benefit of individuals and whānau.

As a Postdoctoral Fellow in the Laboratory for Genomic Medicine at the University of Otago, headed by Professor Stephen Robertson, Ben’s research centres on the application of genome sequencing to address the challenges faced by whānau with rare diseases. Concurrently, he is involved with initiatives aimed at ensuring the equitable application of genomic medicine in Aotearoa, New Zealand.

Ben is a key member of the Genomics Aotearoa Variome Project, which is developing a population specific genomic catalogue for Māori, enhancing genomic diagnostics in Aotearoa New Zealand by improving understanding of genetic diversity within Māori communities. Ben has also worked on the Genomics Aotearoa Rakeiora Project, a pathfinder initiative exploring ways to integrate genomic-based precision medicine into the New Zealand healthcare system.

“It’s an exciting space to be working in, with constant development at the interface of bioinformatics and genomic medicine. I’m working on projects that will make a difference and deliver the most from these advances.”

About Ben
Ben’s appreciation for genetics was rooted at an early age by his mother who is a tree geneticist. He developed an interest in using genome sequencing to explore rare disease genetics during his BSc (Hons) project, identifying the genetic drivers of childhood kidney cancer. 

His subsequent doctoral research at the University of Otago focused on the genomic investigation of patients with brain malformations, identifying disease-causing genetic changes and their impact on brain development.

“I value the potential that our work has to make a difference for whānau. Pinpointing a diagnosis not only enhances patient care, but also provides patients and whānau with understanding of recurrence risk and the option for prenatal testing.”
“I love bioinformatics and what we can achieve with it, I can’t see myself doing anything else.”

Areas of expertise

  • Whole genome and exome sequencing 
  • Human rare disease genetics
  • Long-read sequencing
  • Genome assembly