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Research Overview

The Gene Therapy Research Unit finds ways to correct genetic diseases in children. We are a joint initiative of Children’s Medical Research Institute and The Children’s Hospital at Westmead (CHW). Our primary goals are to develop more effective gene therapy methods and to translate basic research progress into improved health outcomes for children.

Clinical trials are underway to correct SCIDX1-deficiency (“boy in the bubble” disease) and to improve chemotherapy treatment of paediatric cancers. We are also currently working toward a new clinical trial to correct inherited liver disease (OTC and ASS deficiency urea cycle defects).


Realising the therapeutic potential of progress in the laboratory is our ‘raison d’etre’, so we are particularly pleased to have three clinical trials under development or close to initiation. This is a major achievement and places our group at the forefront of this exciting field in Australia.”

Professor Ian Alexander
Head of the Gene Therapy Research Unit

Lab Head

Ian Alexander

Ian Alexander

Head, Gene Therapy Research Unit

Head of the Gene Therapy Research Unit

View full bio

Team Members

Sam ginn
Samantha Ginn
Senior Research Officer
Cindy Zhu
Cindy Zhu
Staff Scientist
James Kerr
PhD Student
Kate Mullany
PhD Student
Lara Graves
PhD Student
Mawj Mandwie
Research Assistant
Neeta Khandekar
Research Assistant
Sharntie Christina
PhD Student
Sharon Cunningham
Senior Research Officer
Sophia Liao
Senior Research Assistant

Research Projects


The partnership between CMRI and CHW provides an excellent environment to undertake the challenging task of translating progress in the laboratory to new therapies in the clinic. While rewarding, this translational journey is immensely challenging as it demands effort across many fronts. In addition to laboratory research activities, we have developed specialised clean-room facilities for the genetic repair of patient cells, undertaken production of clinical grade gene delivery formulations, and formulated standardised procedures governing all aspects of clinical trial activity, all in compliance with complex regulatory requirements.

Research Areas

Clinical trials

We currently have SCID-X1 gene therapy trials underway, as well as trials aimed at treating late-stage brain tumours.

Other laboratory studies

In addition to our work on gene therapy for diseases of the bone marrow and liver, we are also exploring complimentary cell-based therapies for liver disease. Using genetic strategies, it is now possible to reprogram readily accessible cell types, such as skin cells, into cells of potential therapeutic importance, such as liver cells.

We have successfully reprogrammed mouse skin cells and are currently developing genetic repair strategies and defining the conditions that direct cells to become liver cells. Professor Tam’s group, with whom we are collaborating on this project, is particularly important in this regard, as knowledge of how cells grow and adopt specific functions during embryonic development provides important clues as to how to reprogram cells for therapeutic purposes.



Prof Ian Alexander publication list

Major Achievements


Gene Therapy Research Unit formed as a joint initiative of CMRI and The Children’s Hospital at Westmead.


Established clinical grade gene transfer vector production capacity in Australia.


In collaboration with the Children’s Hospital in Paris, conducted first ever gene therapy clinical trial for a genetic disease in Australia.


In collaboration with the Australian pharmaceutical industry, prepared a gene transfer vector and anti-cancer drug formulation for paediatric clinical trial use.


Successfully worked with NSW Health to have Spinal Muscular Atrophy (SMA) added to newborn screening. Read more.


Began Australian trial for SMA gene replacement therapy. Latest update.