Two Berkeley parents raised more than $300,000 in less than three months to support research into treatments for a rare genetic disease their daughter suffers from.
Funds collected through Douglas Dooley and Christine Waggoner’s GoFundMe campaign brought a team of Auburn University scientists closer to the $500,000 they need to complete a series of studies on treatments for a disease Waggoner and Dooley’s 7-year-old daughter Iris suffers from. The completion of these studies will allow the team to submit an investigational new drug application to the Food and Drug Administration.
When she was a toddler, Iris Dooley was unable to cross certain developmental milestones. By the time she was five, she was diagnosed with juvenile GM1 gangliosidosis, a genetic disease that progressively destroys nerve cells in the brain and spinal cord, much like Parkinson’s and Alzheimer’s. The disease affects approximately one in 360,000 children, and most cases result in fatality by the age of 5. No cure or medical treatment is currently available.
“It was like losing the genetic lottery,” Waggoner said.
Upon her daughter’s diagnosis, Waggoner said her family spoke to experts as far away as England and Japan. Eventually, this search led them to Auburn University’s Scott-Ritchey Research Center in Alabama.
Douglas Martin, a researcher at the Scott-Ritchey Center, said that prior to his invention of a new form of gene therapy, the most effective medical advancement in the treatment of GM1 had been placing feeding tubes in patients to keep them from choking.
Martin said his team has been working on the replacement of the faulty gene causing GM1 through the use of a harmless, heavily modified virus that contains a corrective gene. Henry Baker, another scientist with the team, said that when the virus vector is injected directly into the brain, it acts like a Trojan horse and replaces the disease-causing gene with a normal one.
Since the 1971 discovery of a near-identical form of GM1 in cats, the team at Auburn has managed to cure the disease using vectors in a feline called a korat.
“This is the first time in the history of medicine that a fatal neurological disease has been cured by gene therapy,” Baker said.
Both Martin and Baker said that despite the money raised by parents such as Waggoner and Dooley, there are still hurdles the team must overcome.
“The vector that worked in cats may not work in children,” Baker said, adding that the FDA’s lack of experience in regulating gene therapy treatments could pose unforeseen challenges.
Waggoner said that while she was aware that the progression of her daughter’s condition could rule her out of any future treatment trial altogether, she wanted to leave a legacy for future families and children suffering from GM1. She said she was awed by the “incredible generosity of strangers.”