The family of a young boy who suffers from a rare genetic condition has taken the extraordinary step of raising enough money, with the support of Rotary, to fund a PhD student who will work on finding treatments and a possible cure for the disease.
Monika and Vivek Singha from the FoxG1 Foundation, along with Hills Kellyville Rotary and the Australian Rotary Health, held a presentation at Children’s Medical Research Institute at Westmead this week, to hand over a cheque to fund the work of PhD student, Jason Ward.
It is a labour of love for the Singhas, who have four children, including five-year-old Kush. Kush has a mutation of the FoxG1 gene that has not been reported in any literature. He does not walk or talk and has suffered from severe seizures since he was very young.
“What keeps us going is the determination to help others like Kush, and work towards finding a cure,’’ Mr Singha said. "We believe with advances in genetics and medicine and with the right research kicking off, Kush could one day be able to run and be able to ride a motorcycle or drive a car. We always say, together we will find a cure.''
The family are extremely committed to supporting research. They encouraged Hills Kellyville Rotary and Australian Rotary Health to donate to CMRI.
PhD student, Jason Ward, will work within the Translational Vectorology Group at Children’s Medical Research Institute’s. Group Leader, Dr Leszek Lisowski, said they wanted to help families like the Singhas who have been given a diagnosis but no treatment.
“Saying that nothing can be done, doesn’t tick the box for me,’’ Dr Lisowski said. “We create biological tools that locate affected cells and correct disease causing mutations.’’
The team takes a virus, replaces all the negative elements of it, turning it into a “vector”, which is like a microscopic scalpel that can correct errors in DNA. This vector is then used to repair the mutation in the patient and ultimately provide a cure.
“It wipes out the disease.’’ Dr Lisowski said. “It can actually find the cells of interest that contain the mutation and correct them. It is the next step in the evolution of medical tools and technologies that will have an immense impact on the patient and the healthcare system.’’
Dr Lisowski said that while the project aims to find treatment options for patients affected by FoxG1 Syndrome, the work would have wider implications. “It’s a very big and complicated project but the knowledge we gain and the tools we create will also benefit patients suffering from other genetic disorders of the central nervous system.”
Mr Ward said he was very thankful for the scholarship after working for 18 years as a nurse.
“I can follow the path I started, using the skills of my previous career. It’s nice to be on the other side of the fence, where I could find a cure that we’ve never been able to offer before.’’
Australian Rotary Health Director, Graeme Davis, said they had funded more than 100 scholars across the country and they liked to support PhD students to get “runs on the board’’.
“The Singhas are a wonderful family,’’ Mr Davis said. “What struck me was that when they do these things, it could have an impact on so many people. This is a wonderful story. I love to think that some bright PhD scholar could make a breakthrough, but they most definitely will add to the body of knowledge about this condition. How rapidly research is galloping along, is really exciting.’’
Haran Ramachandran, from Hills Kellyville Rotary, said they were about much more than barbecues.
“Hopefully there will be a cure, not only for FoxG1, but for other disorders.’’
To find out more about FoxG1 visit foxg1.org.au