Genomic medicine collaboration featured in

Stephanie Smith’s third child, Gage, was different from the start. He didn’t cry like a normal baby, and as he grew, he missed most major milestones, she said.

Smith enrolled her son in physical therapy and sought answers from medical doctors, who couldn’t pinpoint a problem with her son. They diagnosed his delay and provided a bleak prognosis that he might never learn to walk, talk or take care of himself.

The Smith family moved to Boaz and began bringing the children to UAB, eventually landing in the office of pediatric rheumatologist Dr. Robb Lowe, who treated the two youngest children.

Lowe referred the family to the newly created Undiagnosed Diseases Program, a partnership between UAB and HudsonAlpha Institute for Biotechnology that uses innovative whole exome sequencing to identify the genetic causes of debilitating diseases. The program launched in 2013.

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