Piper Wood had her first seizure at six months old, on a family vacation in a setting meant for sunscreen, snorkels, shovels, and pails. Her diagnosis: Dravet syndrome, a catastrophic form of epilepsy marked by fierce seizures – sometimes hundreds in the course of a day – that eventually lead to cognitive and social impairment.
“An epilepsy diagnosis is very difficult to deliver to a family because the sheer nature of seizures is just so unpredictable,” says Joseph Sullivan, MD, Piper’s neurologist and director of UC San Francisco’s Pediatric Epilepsy Center. “About one-third of our pediatric epilepsy patients continue to have seizures, even with optimal treatment.”
An epilepsy diagnosis is very difficult to deliver to a family because the sheer nature of seizures is just so unpredictable.
Piper’s father, Tim Wood, worked with Sullivan to initiate research that upended the field. Sullivan and his colleagues proved that Dravet is twice as prevalent as previously estimated, a finding that has helped other kids with this devastating disease. Wood is one of a number of parents of children with epilepsy who have partnered with physicians and scientists at UCSF to hasten cures. Another group of parents kick-started the use of cannabinoids – marijuana-derived drugs – for childhood epilepsy with great success. Together, they have relentlessly defied conventional medical wisdom to reimagine a whole new care-delivery and drug-discovery model.
Scott Baraban, PhD, the William K. Bowes Jr. Professor of Neuroscience Research, has genetically engineered zebrafish models for Dravet and every other genetically caused childhood epilepsy. All told, there are more than 70.
Unlike mice, which may produce only one or two pups per litter with the mutation, adult zebrafish can give birth within a week to more than 100 larvae with the same mutation, enabling Baraban to test 100 drugs per week on the larvae. The National Institutes of Health’s drug development program for epilepsy screens only about 200 drugs per year.
“In less than three years, we have tested more than 2,000 FDA-approved drugs using this Dravet fish,” Baraban says. “We have found five promising drugs, and in some cases, they are going straight from zebrafish to patients.”
That process – progressing a drug from animal model to patient – typically takes 15 years and costs $800 million. Baraban did it in less than five years and for less than $5 million. True to UCSF’s public mission, he has made these models available to researchers everywhere so scientists the world over can work simultaneously to find cures for kids like Piper as fast as they possibly can.
Read the full story in UCSF Magazine.