Young Investigator: Q&A with Alexandra O’Donohue about Gene Therapy for NF2-Related Tumors

The Young Investigator Award (YIA) provides two-year salary support to early-career NF researchers to help them establish themselves as independent NF investigators and pursue bold, innovative projects designed to improve care and uncover new treatments for people living with NF. Since its inception, several YIAs have made groundbreaking research findings and notable publications through this program, and many have advanced to become leaders in the NF research and clinical communities.

We're pleased to introduce some of these researchers from the latest class of awardees : Alexandra O'Donohue, PhD (University of Sydney, Australia), whose YIA-funded study is exploring a gene editing approach designed to repair NF2 pathogenic variants and prevent the development of vestibular schwannomas, with the goal of preserving hearing, balance, and quality of life for people living with NF2-SWN.

What are you hoping to discover through this project?
My project aims to develop a preventative treatment for tumors for NF2-related schwannomatosis (NF2-SWN) by correcting pathogenic variants at the DNA level. I have already developed cell lines and small animal models featuring patient variants associated with schwannoma formation. These will be corrected using CRISPR gene editing techniques and advanced vector delivery systems that target the Schwann cells.

What first drew you to study NF and/or what continues to inspire your work?
My mentor and group leader, Associate Professor Aaron Schindeler, has worked in the NF field for over 20 years. When I began my PhD in his lab, my project focused on a different childhood genetic disease. During that time, Aaron and other students would comment on how inspiring the CTF community was - bringing together basic scientists, clinicians, individuals living with NF, and advocacy groups. When it came time to start my post-doctoral position, I started my own arm of the NF project and couldn't be happier. Now as part of the community, I see how everyone genuinely wants to see the field progress and the efforts people go to introduce new techniques as quickly and as safely as possible.

What does a typical day in the lab look like for you?
I like to start early, getting my experiments underway before the day fills up with students and meetings! Most of my mornings begin in tissue culture, then I move to the bench for DNA extractions, qPCRs, or western blots. If I'm lucky, it's a histology day and I will spend most of the day staining and imaging tissues in my own little world.

Of course, research isn't just hands-on science; there's plenty of admin too. I'm often juggling experiments around meetings with students, research operations, and committees. It keeps things lively, and no two days are the same.

How do you like to spend your time outside the lab?
Outside the lab, I love baking and cooking! My partner and I are about to move in together, and we've been building a collection of our favourite recipes. Honestly, I think a lot of scientists love cooking. What is the real difference between troubleshooting a protocol and perfecting a recipe?

What does it mean to you to receive this support from the Children's Tumor Foundation?
I am incredibly grateful for the support of the Children's Tumor Foundation and very honored to receive this award. It has allowed me to fully focus on my NF2-SWN gene therapy project, with the hope that our results will feed back into the amazing cycle of translational science and clinical care.

This funding has also helped me take steps toward research independence, boosting my confidence and reinforcing my aspirations as an academic researcher. It's truly been a stepping stone for my career, already opening doors to international talks and exciting new collaborative projects.

Click here to learn more about funding opportunities, including the Young Investigator Awards, from the Children's Tumor Foundation.