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Charlie and Mira Taouk鈥檚 hopes for their daughters are different from the kind most parents have for their children. The Taouks wish eight-year-old Mary and four-year-old Neveah could stand and walk without help. They dream their girls might one day learn to communicate with basic gestures. 鈥淎t least then they could point to where their pain is,鈥� Charlie says. 鈥淚f they were hungry or thirsty or tired, they could let us know and we could help. For us, those things would be life-changing.鈥�

Charlie and Mira dare not imagine a cure will be discovered for their daughters鈥� rare genetic disorder. They don鈥檛 even hold out much hope for a decent night鈥檚 sleep; seizures regularly rack their girls鈥� bodies in the small hours. 鈥淚t鈥檚 been years since we went to bed with minds clear of anxiety and panic,鈥� Charlie says.

Mary and Neveah were both born with a mutation in the gene known as PGAP1 鈥� a recently discovered disorder so rare it has no name. The family know of no other cases in Australia. Specialists have identified perhaps a dozen cases around the world.

For years it seemed no-one could help Mary and Neveah but now, with support from a donation from the Taouk family and a newly launched , researchers at the University of Sydney and the Children鈥檚 Medical Research Institute will work to develop the world鈥檚 first gene therapy targeting the PGAP1 mutation. This research is Charlie and Mira鈥檚 first glimpse of hope since their eldest daughter started showing symptoms as a baby.

Mystery genetic disorder

For the first six months of her life, Mary seemed like a healthy little girl. Charlie and Mira first suspected something was wrong when she started missing developmental milestones. Their baby never made eye contact. She cried all the time. She slept no more than three hours a night.

As Mary grew, so did her problems. She could not speak and struggled to eat. Her muscles were so weak it was hard for her to move. She started having seizures 鈥� often clustered with only a minute鈥檚 rest between fits. Doctors ran tests, but they came back clear. Without a diagnosis, there was nothing anyone could do.

The uncertainty made it difficult to predict what would happen if Charlie and Mira had another child. At worst, geneticists told them, there was a one in four chance the condition would appear again. They took the risk.

When Neveah was six months old, familiar symptoms began to appear. Both girls, it seemed, had the same unknown condition. With both children requiring constant care, Charlie gave up his waterproofing business to stay home with his family. 鈥淏ut what can you do when you don鈥檛 even know what鈥檚 wrong with your child? You can鈥檛 even try to help,鈥� he says.

Gene therapy: a glimmer of hope

At last, when Mary was seven and Neveah three, new developments in whole-genome sequencing enabled specialists to identify the disorder. The diagnosis gave the Taouks information but not hope. They knew what the problem was, but there was no treatment and no cure.

Desperate, Charlie contacted specialists around the world. 鈥淚 must have spoken to at least fifty people 鈥� scientists, doctors, professors,鈥� he says. 鈥淢ost of them had never heard of the condition.鈥�

His search eventually led to Dr Wendy Gold, a specialist in rare genetic disorders in children, based at the University of Sydney and the Children鈥檚 Hospital at Westmead. 鈥淲e arranged to talk,鈥� says Charlie. 鈥淭o be honest, I wasn鈥檛 expecting much. But then she said, 鈥楬ave you heard of gene therapy?鈥欌��

Gene therapy is a new and rapidly evolving field of research. One of the therapy鈥檚 forms involves adding new genes to a patient鈥檚 cells to replace missing or malfunctioning genes. The new genes are typically delivered to the appropriate cells in the body using a benign virus as a carrier. Gene therapy is already being used to treat diseases including spinal muscular atrophy. It could also be a promising treatment for Parkinson鈥檚 disease. Dr Gold believed there was a chance it could help the Taouk girls.

Fundraising for world-first research

Finding funding for research into rare medical conditions is a challenge. Pharmaceutical industry funding and other research grants tend to focus on conditions that affect larger numbers of people. Philanthropic support was the only option.

With help from their family, Charlie and Mira have donated $315,000 to fund research to develop the world鈥檚 first gene therapy for the PGAP1 mutation. Dr Gold will co-direct the project with Dr Leszek Lisowski, a gene therapy expert at the University of Sydney and the Children鈥檚 Medical Research Institute.

The donation from the Taouk family will fund two years of research. The University has launched a to support the project beyond this period. Within two years, Drs Gold and Lisowski hope to develop a PGAP1 gene addition ready for testing, initially in cells outside the body. It will take longer to investigate the feasibility of a therapy for use inside the human body, so the crowdfunded support is crucial.

Treatment for children around the world

Success is not guaranteed, but the team hopes to develop a treatment that will help children around the world. 鈥淭his is experimental work, so we can鈥檛 be sure what will happen, but the goal is a therapy that could be used on other patients with the same mutation,鈥� says Dr Gold. 鈥淚鈥檓 hoping it will help these girls and other children as well.鈥�

It doesn鈥檛 end there. 鈥淭he tools and knowledge developed during this project will also benefit paediatric patients affected by other genetic disorders,鈥� says Dr Lisowski. 鈥淭his technology is already curing genetic disorders and changing lives. We are working hard to ensure the gene-therapy revolution benefits Australian paediatric patients as soon as possible.鈥�

Hope, for Charlie and Mira, feels like a risk. But if there鈥檚 a chance for their girls, no matter how small, they will take it. 鈥淲e wake up for them every morning,鈥� says Charlie. 鈥淭his research 鈥� if it works 鈥� won鈥檛 just be treating two girls. It will be saving a family of four. This is a cure for us, too.鈥�