What is your role?

I have been a post-doctoral researcher in the Engreitz Lab for just over 3 years now. I’ve been leading a project to develop a new technology called ‘Variant-FlowFISH’, which enables us to precisely introduce non-coding variants into the genome of cells and measure their effects on gene expression. 

What do you enjoy most about your role?

Most of my days I spend in the ‘wet lab’, at the bench conducting the experiments which I really enjoy, but I also love designing and planning out experiments and thinking about the scientific questions I want to ask. No day is ever the same! Often the experiments we perform can take months to complete, so of course, the best part is when you get the data back, especially if there is an exciting result! I also really enjoy the teamwork aspect of a lab environment, particularly training and assisting other graduate students or technicians with their projects and watching them grow into independent scientists.

Where were you before you came to Stanford?

I am originally from Sydney, Australia. Before coming to Stanford, I did my PhD at the University of New South Wales in Prof. Merlin Crossley’s Lab, in the field of ‘hemoglobin switching’. I studied a cluster of naturally occurring mutations which elevated fetal hemoglobin levels, and I showed that they functioned by disrupting the fetal globin repressor, BCL11A.

Share a bit about one of your research projects/experiences (past or current):

Here at Stanford, we have recently published a pre-print about our new technology called ‘Variant-FlowFISH’. It’s a high-throughput technology, which combines CRISPR prime-editing with RNA-FlowFISH and it allows us to simultaneously assess the effects of 100’s of edits in a single experiment on gene expression. Such a tool is highly valuable for studying the effects of non-coding variants on gene expression and mapping or identifying key regulatory elements. If you are interested in learning more, please see this link to our pre-print: (Martyn & Montgomery et. al, 2023)

(https://www.biorxiv.org/content/10.1101/2023.12.20.572268v1.full.pdf)

Who is a scientist that inspires you, and why?

As an undergraduate student, I remember being really inspired by a ‘guest lecture’ from Prof. Merlin Crossley (who later became my PhD supervisor). He presented his research on the genetics of Hemophilia B Leyden, an unusual genetic disease that resolves after puberty in young males and I was fascinated by this story. Merlin explained to us the mechanism of the disease, how clusters of mutations were disrupting the binding of transcription factors, resulting in a lack of clotting Factor IX. But the most inspiring part of the story was how they solved the mystery, showing that after puberty, the increase in testosterone levels allowed a different transcription factor (the androgen receptor) to bind to this site, to produce clotting Factor IX. After this lecture, the idea of how non-coding variants can provide clues to solve the puzzle of how genes are regulated and can affect disease was something I was very interested in!

What are your favorite activities outside of work?

Outside the lab, I enjoy most outdoor activities. My favorite activities at the moment are open water swimming in San Francisco Bay and hiking and taking photos out in Yosemite.

What do you hope to be doing 10 years from now?

I hope to still be working in the ‘variant-to-function’ field of genetic research. It’s something which I started researching during my PhD, studying a handful of mutations and now here at Stanford we have a new technology to study 100’s of variants in a single experiment. In 10 years time and with technological advances, it is exciting to think about what will be possible!