A legacy that could change lives

In Australia, congenital disorders occur in just under two per cent of all live births. The symptoms of these disorders are a leading cause of child mortality and can also result in long-term disability.

Paul Wolkowicz – the only son and child of Susan and Stephen, developed the symptoms of a congenital disorder called neurofibromatosis in his pre-school years.

Characterised by the development of tumours in the nervous system, the relatively common congenital disorder caused Paul to develop areas of dark pigmentation and swelling on his torso, neck and on the side of his face. Further symptoms occurred from his teenage years onwards.

“Paul demonstrated an extraordinary ambition to achieve,” says Susan Wolkowicz.

“It appeared that he coped with his physical disfigurement, health setbacks and surgeries by channelling his energy into academic achievement.”

Paul graduated with a Bachelor of Arts at University of Sydney. He was particularly interested in philosophy, politics, law and the environment.

“Education has been important to this family for several generations so it was a given for us that Paul would be offered all opportunities. It was up to him to take them - and he did.”

After completing his undergraduate degree, Paul graduated with a Master of Urban and Regional Planning. In 1993, he also received the NSW Department of Planning Prize for Outstanding Academic Achievement. He lived at St Paul's College throughout his five years at the University of Sydney.

Paul then worked with the NSW Environment Protection Authority. He carried out research in the areas of pollution, landfill and recycling and assisted in the drafting of relevant legislation and regulation.

At age 25, Paul Wolkowicz died from a virulent cancer in the neck area, likely arising from his underlying condition.

In his memory, Susan and Stephen decided to make a bequest to the University to fund a PhD scholarship for research in congenital disorders – the Paul Wolkowicz Memorial Scholarship.

“It was a no-brainer for us to leave this particular bequest to the University of Sydney for research into congenital disorders, in particular one manifesting itself in children,” says Susan Wolkowicz.

“Our giving was our way of saying thank you to the University that provided Paul with such wonderful opportunities for five years of a short life.”

“We also wish to provide a PhD candidate with an opportunity to make his own contribution to the field.”

NF1 is caused by a defect to the gene that regulates cell growth. A mutation to the NF1 gene causes a loss of the neurofibromin protein, which allows the cell to grow uncontrolled.

While there are many treatments for complications relating to NF1, as yet there are no treatments for the underlying genetic defect.

Researchers from the Children’s Medical Research Institute (CMRI), the Children’s Hospital Westmead (CHW) and affiliates of the University of Sydney are working hard to rectify this.

Dr Samantha Ginn from the Gene Therapy Research Unit, Dr Leszek Lisowski and Dr Matthieu Drouyer from the Translational Vectorology Unit at CMRI together with Associate Professor Jeff Biernaskie, from the University of Calgary, are developing a cutting-edge genome editing strategy and efficient gene delivery systems. They hope this will repair a wide range of pathogenic mutations within the NF1 gene.

The proof-of-concept study will use viral vector-based delivery technology for the safe and efficient targeting of human Schwann cells. This work is generously supported by a Project Grant from the US Children’s Tumor Foundation.

Work also continues to minimise the impact of NF1 complications, including low muscle tone, seizures, reading disabilities, optic pathway glioma and benign tumours among affected children.

Dr Belinda Barton, NF1 Neurocognitive Research Team Leader at the Children’s Hospital Westmead and Senior Lecturer at Sydney Medical School is conducting a MEK inhibitor trial to decrease the size of dangerous plexiform neurofibromas and optic pathway gliomas using trametinib.

Phase II of the trial will assess the efficacy and evaluate the safety of trametinib over a two-year period. The team is currently seeking funding for this project.

There is still much to be done to help families and children with congenital disorders. By supporting research, we can change outcomes for patients globally.

How you can help

If you would like more information on how your legacy can support research and education, please call Alexandra Miller on +61 2 8627 8811 or via email at alexandra.miller@sydney.edu.au