Children
Precision
Genomic
Medicine
G
enerous philanthropic
investment launched rapid
whole genome sequencing
at Rady Children’s Institute
for Genomic Medicine in July
2016. To date, the Institute has sequenced
more than 1,200 critically ill children to
gain insight into their rare and undiagnosed
diseases. More than one-third received a
genomic diagnosis, enabling physicians to
make life-changing adjustments in care for
more than 70 percent of those diagnosed.
The vision of the Institute’s CEO, Stephen
Kingsmore, MD, DSc, is to make genomic
medicine fast, facile and fully integrated into
the daily standard of care for all of the annual
estimated 40,000 critically ill children in the
United States who would benefit - first within
Rady Children’s Hospital, then across California
and nationwide. Thanks to generous support
from the 111th Annual Charity Ball, Leap Into
The Future, this vision is coming to fruition.
Patients like Maverick who is able to chart a new course to not only survive,
but to thrive in the face of what would have been a devastating diagnosis.
Maverick’s birth was uneventful. His development seemed normal. From the
moment he was born, all signs pointed to a healthy and happy life.
But at 6 days old, Maverick stopped eating. His mother, Kara, noticed mild
spasms. She called the family’s pediatrician who instructed her to take the tiny
baby to the emergency department. When they arrived, it had been nearly eight
hours since Maverick had eaten. He was jaundiced, and soon began spitting up
blood. He was immediately admitted to Rady Children’s Hospital.
68 GBSAN.COM | OCTOBER 2019