Media Coverage

Daily vitamin doses were all that 11-month-old Maverick Coltrin needed to end the deadly seizures that arrived shortly after his birth.

But that simple solution materialized only after quick-turnaround genetic sequencing helped doctors at Rady Children’s Hospital in San Diego find the correct diagnosis fast enough to make a difference for the rapidly-deteriorating infant.

Whole-genome and whole-exome sequencing have greater diagnostic and clinical utility than chromosomal microarrays in children thought to have a genetic disease, according to a new analysis. This suggested to the Children’s Institute for Genomic Medicine-led research team that sequencing should be considered a first-line genomic test.

A superteam of seven pediatric hospitals with advanced genetic and genomic testing capabilities is reporting progress in their efforts to improve the diagnosis of rare childhood diseases and hasten treatment.

Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. Whole genome sequencing*carried out quickly has the potential to provide an early diagnosis, and thus improve the clinical care of these infants as well as reducing its cost.

The story of Maverick Coltrin’s medical mystery is gripping: Last October, he was just 6 days old when he stopped eating. Then the seizures came. His tiny arms and legs would stiffen for a few seconds as many as 30 times per hour. Doctors at Rady Children’s Hospital in San Diego tried multiple tests and medications, but nothing revealed what was wrong. When Maverick turned dusty blue, his parents asked, “Do you think he’s going to survive?”

The answer: “We’re doing everything we can.”

“Everything” was about to have a new meaning.

Studies suggest that whole-genome sequencing can be done more quickly and cheaply, offering fast diagnoses that can save ailing babies.

While genetic diseases pose the single biggest source of infant mortality in the U.S., many of these disorders are so rare and little understood that an accurate diagnosis can take weeks or months.

The National Institutes of Health has awarded a grant of over $34 million to the Scripps Translational Science Institute to apply digital and genomic technologies to health care.

The five-year grant is the third Clinical and Translational Science Award the NIH has awarded to the institute, part of The Scripps Research Institute.