The Centre for Translational Excellence in Neurofibromatosis Research brings together leading basic scientists, clinicians, and clinical trial experts to accelerate discoveries that improve outcomes for people living with Neurofibromatosis (NF).
NF is a rare genetic tumour predisposition disorder affecting approximately 1 in 3,000 individuals worldwide. It causes tumours to develop along nerves throughout the body and is associated with progressive disfigurement, significant health complications, and a lifelong risk of cancer that peaks in early adulthood.
Our multidisciplinary team combines expertise in mouse and tissue biology, clinical care, and clinical trial design and delivery to identify, develop, and test new therapies for NF. By integrating laboratory research with patient-centred clinical programs, we aim to translate scientific discoveries into effective treatments that improve the lives of patients and their families.
Cancer
Team Lead
Associate Professor Yemima (Mimi) Berman
Team Lead, The Neurofibromatosis Centre for Translational Research
Head, Department of Clinical Genetics
Royal North Shore Hospital
Director, Human Genetics Society of Australasia
Co-Chair, NorthStar Clinical Trials Pediatrics and Clinical Genetics Stream
Co-chair, Sydney Health Partners Precision Medicine and Genomics Clinical Academic Group
Team Members
Dr Katrina Morris
Neurologist
Royal North Shore Hospital
Concord Repatriation General Hospital
Dr Laura Rudaks
Neurologist
Royal North Shore Hospital
Dr Sue-Faye Siow
The Neurofibromatosis Centre for Translational Research
Clinical Geneticist and Neurologist
Royal North Shore Hospital
Dr Madhura Bakshi
Clinical Geneticist
Royal North Shore Hospital
Dr Brooke Gardiner
Research Fellow, Genetics
Royal North Shore Hospital
Dr Karl Davies
Research Fellow, Genetics
Royal North Shore Hospital
Dr Theone Papps
Dermatologist
Royal North Shore Hospital
Dr Adrian Lim
Dermatologist
Royal North Shore Hospital
Dr Tai Phan
Dermatologist
Royal North Shore Hospital
Tina Gonzales
Genetic Counsellor
Royal North Shore Hospital
Rachel Xifaras
Genetic Counsellor
Royal North Shore Hospital
Nanette Lacson
Clinical Trials Manager
Royal North Shore Hospital
Dr Jane Fleming
Clinical Research Manager
Royal North Shore Hospital
Martin Good
Clinical Nurse Specialist
Royal North Shore Hospital
Melissa Pacque
Research and Contracts Manager
Royal North Shore Hospital
Jay Pundavela
Senior Research Scientist
Royal North Shore Hospital
Yupeng Zhang
Data Scientist
Royal North Shore Hospital
Investigating the effect of hormones on tumour growth in NF1.
Examining the efficacy and acceptability of whole body MRI for tumour screening in adolescents and young adults with NF1.
Building a biobank of NF related tumour samples with genomic and immune characterisation.
Artificial Intelligence analysis of Imaging- enabling analysis of large datasets including whole body 3D imaging (WB360)
- New Frontiers 2 – Establishing a national registry and virtual biobank for NF2-related schwannomatosis.
- BRAINSCAN – Imaging repository supporting volumetric analysis of tumours in NF2-related schwannomatosis.
MAGEN- liquid biopsy for early detection of malignant peripheral nerve sheath tumour (MPNST) in NF1Children’s Tumour Foundation Australia
CNFC- International Cutaneous Neurofibromatosis Consortium
Collaborators:
Flicker of Hope- Shining a light on NF
Children’s Tumour Foundation Australia
Children’s Tumour Foundation USA
Johns Hopkins NF Therapeutic Advancement Program (NTAP)
Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS)- cutaneous neurofibroma working group.
