Get to know NF Researchers in Australia - Dr Brooke Gardiner 

CTF Australia welcomes the opportunity to introduce Dr Brooke Gardiner to our NF community. Dr Gardiner is a Clinical Genetics and Genetics Research Fellow at the Royal North Shore Hospital (RNSH) in Sydney. She is part of the NFSURE research team led by Dr Jane Fleming and Associate Professor Yemima Berman. The researchers have finalised the initial NFSURE study, and have now started the NFSURE+ follow up study.

You can read more about the outcomes of the initial NFSURE research project presented by Brooke at the recent NF Clinical Symposium 2025 in a post by CTF Australia. She is now involved with the NFSURE+ study for which recruitment is open. We thank Brooke for this related interview, where she shares what inspires her to help young adults with NF1 thinking of starting a family and having children themselves.

“We want reproductive and hormonal health to become a regular part of standard NF care. The NFSURE and NFSURE+ studies show that these issues are very important to patients, yet they’re often not discussed enough in routine care.”

You are in training to become a clinical genetics specialist. What does a medical doctor with this expertise do in the hospital?

A clinical geneticist is a doctor who helps find and treat health problems that are passed down in families. As trainees, we see patients in clinics and on the wards, arrange appropriate testing, and help families understand their results. Genetics is a growing area, and new tests are being developed all the time. This means our work combines science, patient care and research in exciting ways.

How did you become interested in NF?

NF is a common topic in medical training, but it wasn’t until I joined the genetics service at Royal North Shore Hospital that I truly saw the impact it has on patients’ day to day. What stood out most was how common NF is compared with how limited the treatment options remain. Seeing how much patients value clear information and supportive guidance really motivated me to contribute to improving care and research for this group.

What made you join the NFSURE+ research team at RNSH? Did your interest in public health policy play a role?

The NFSURE+ study is looking at how hormonal changes like pregnancy, breastfeeding, and the use of hormonal medications, might affect neurofibroma growth in women with NF1. The study uses MRI, whole-body photography, and AI tools to track how neurofibromas change over time. I joined the project because it looks at an important clinical question that many patients ask, but hasn’t been studied in depth.

From a public health point of view, the study also matters because it highlights an equity issue. Women with NF1 make up half of our patients, yet very little research has explored how hormones affect their health. The evidence we gather could help shape future guidelines and ensure these concerns are recognised in clinical care and health policy.

I’ve been fortunate to work with Dr Mimi Berman, whose expertise and dedication to patient-focused research have been incredibly helpful. She has been generous with her time and support, and it has been a privilege to work with a team so committed to improving outcomes for people with NF.

What benefit is the NFSURE+ research study hoping to bring to patients with NF?

The study aims to give patients clearer, evidence-based answers about how hormonal changes might affect their neurofibromas. Many women with NF report that their neurofibromas change during times of hormonal shift, but we haven’t had strong data to confirm or explain this. By combining MRI, photography, and AI analysis, NFSURE+ hopes to better understand these patterns and identify which patients may be at higher risk of tumour growth. In the long run, the goal is to improve counselling, support safer prescribing, and help guide future treatment options.

What is the biggest challenge in the NFSURE+ study? Can you explain some of the issues you are facing in this research study?

The biggest challenge so far has been recruiting enough participants, especially women who are pregnant or planning a pregnancy. Pregnant women with NF1 make up a small patient group, and the need for tests like MRI and whole-body photography can make it harder for people to take part. Another issue is access to whole-body photography equipment, which we can currently use only in Sydney and Melbourne. Despite these hurdles, interest from patients has been positive.

Are other researchers (in Australia and beyond) also interested in your research focus and do you work together?

Yes, the question of how hormones affect neurofibromas has been discussed in medical research for many years, but we still don’t have clear answers. Interest in this topic is growing worldwide, and we’re working with international researchers on areas like image and data analysis. We’re also looking at ways to expand parts of the study including surveys about hormonal exposures to NF groups in other countries.

This kind of collaboration is important because it helps strengthen the data and makes sure our findings apply to patients in different settings.

How can a study like NFSURE+ make an impact? Have you been able to share your findings in a publication or otherwise??

NFSURE+ has the potential to directly improve how we care for women with NF1. By providing evidence on how hormones may affect neurofibroma growth, the study can help us give better counselling and use hormonal therapies more safely. Beyond the clinical impact, it also brings attention to an area of NF care that is often overlooked — reproductive and hormonal health. As the NFSURE+ data continues to grow, we plan to share the results through conferences and publications. This will help guide future clinical guidelines and support better standards of care.

What would you like to see happen for NF patients?

Ultimately, we hope to see effective medical treatments for both cutaneous and plexiform neurofibromas. Learning how hormones affect neurofibroma biology could help lead to new, targeted therapies. We also want reproductive and hormonal health to become a regular part of standard NF care. The NFSURE and NFSURE+ studies show that these issues are very important to patients, yet they’re often not discussed enough in routine care. Bringing this research into clinical guidelines and making sure patients receive clear information early and consistently would be a major step forward. It would improve quality of life and help people with NF make more informed decisions about their health.

You can read a summary of Dr Gardiner’s presentation titled ‘NFSURE Study: Supporting reproductive choices and decision-making for adults with Neurofibromatosis’ with more scientific detail aimed at health professionals here.

Or read the summary aimed at Patients and Carers here.

If you have NF1 and you are of reproductive age, you are either pregnant or planning a pregnancy, we invite you to join this important new research project – for more information please click here or contact NSLHD-GeneticsResearch@health.nsw.gov.au