Stanford researchers help Clovis parents find answers to son’s delayed development
By Dale Yurong
Wednesday, April 24th, 2019 7:13PM
FRESNO, Calif. (KFSN) — 4-year-old Jashan Gill wasn’t always a smiling little boy.
After he was born, his parents Manpreet and Harvey Gill, noticed Jashan didn’t really take to milk.
“He wasn’t gaining enough weight and his gross motor, his speech, everything was delayed,” Manpreet said.
Doctors did endless blood tests. The Gills brought him to a neurologist.
“He wasn’t crawling. He wasn’t babbling,” Harvey said. “He wasn’t doing anything to show he was developing as other kids at his age.”
Doctors didn’t know why.
“It was difficult because you want your kid to hit all those milestones,” Manpreet said.
The family’s diagnostic odyssey finally brought them to Palo Alto. They applied to Stanford’s Center For Undiagnosed Diseases. Jon Bernstein is a Genetics Professor at Lucile Packard Children’s Hospital.
“The mission of our center is really to develop new and more efficient methods for recognizing rare diseases that may be hard to find,” Bernstein said.
Stanford freshman Charlie Curnin played a big role in the breakthrough. His computer program analyzed mutations in genomes.
“I developed a tool that will search a patient’s genome for this kind of genetic abnormality that was found to be causing this patient’s disease,” Curnin said.
Bernstein noted a deletion in the area of Jashan’s number 6 chromosome.
“The area where there’s less DNA sequence generated is the area where the patient only has one of the two copies that most people would have.”
In 2017, Manpreet and Harvey finally had their answer.
“It was a big relief because we had no idea what was going on,” Harvey said.
Bernstein was able to attach a name to their son’s condition.
“Some people refer to it by the name of the gene that’s involved. It’s called ARID1B,” he said. “Also, it’s part of a family of conditions that are referred to as Coffin-Siris Syndrome.”
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