Two local companies are in the record books – for saving the lives of children and babies around the country.
Stephen Kingsmore, MD, DSC of Rady Children’s Institute for Genomic Medicine was awarded a Guinness World Record, after he was able to decode a newborn genome in less than 20 hours, using San Diego-based company Illumina’s sequencing system.
Kingsmore broke his own previous record he set in 2015, by delivering analysis and interpretation of life-threatening genetic variations in just 19.5 hours.
This breakthrough is so important, according to Kingsmore, because it will save lives and lead to faster diagnoses in babies.
“If there’s a genetic condition, you often don’t know about it until the baby is born,” Kingsmore explained. “There’s a race against time to find out the cause,” he said.
This genome sequencing process saved the life of 1-year-old Sebastiana Manuel, who was born with a rare genetic disorder that went undiagnosed for days.
“Her first seizure was three hours after she was born,” said Dolores Sebasitan, Sebastiana’s mother.
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Dolores recalls the agony of those first few days in December 2016, when doctors couldn’t definitively diagnose her daughter’s illness. Sebastiana was seizing every few hours and turning blue. Doctors sedated Sebastiana and told her parents to prepare for the worst.
“It was a lot of maybes,” Dolores said, a lot of “I think this is what she has but I’m not sure.”
Sebastiana was rushed to Rady Children’s Hospital where Dolores learned about the option of sequencing her daughter’s genome.
Within several days of the test, Sebastiana was diagnosed with Ohtahara syndrome – a rare genetic disorder that causes seizures in newborns. Sebastiana was put on two anti-seizure medications and hasn’t had a seizure since.
“They gave us a list of 200 things that she wouldn’t be able to do, and she’s doing all of them,” explained Sebastiana’s father Pascual Manuel.
Kingsmore and colleagues at Rady Children’s Institute for Genomic Medicine are now sequencing the DNA of roughly 15 babies a week from San Diego and around the country.
