Calvin Lapidus, 3, sits on an exam table at UCLA Medical Center and points correctly when asked to identify different animals on an iPad. His mom, Audrey Davidow Lapidus, lowers him to the floor and holds him as he moves his legs in "purposeful steps" as UCLA geneticist Stanley Nelson observes. Calvin can't walk, but his movements are far beyond what they were at 10 months old, when he still wasn't rolling over or sitting up and first came to UCLA. Medical tests had not turned up anything, though one doctor had wondered about possible genetic implications of some "interesting" facial features.
Indeed, a cutting-edge analysis of Calvin's DNA revealed a mutation resulting in ultrarare Pitt Hopkins syndrome, which affects just 300 or so people worldwide. A diagnosis, especially at such an early age, "meant the world to my family," says Davidow Lapidus. She and her husband now understand that Calvin will face intellectual disabilities, trouble walking and talking, breathing issues and seizures. So few adults have the syndrome that it's still unknown if it affects life span.
Davidow Lapidus is now president of the Pitt Hopkins Research Foundation, focused on finding a cure and connecting with other families. "That's been the saving grace of all of it," she says, "to have a community."
Elsewhere on campus, melanoma patient Julio Cano is also in for a consult. In 2011, he came to the hospital with several grapefruit-sized tumors around his abdomen, and a biomarker suggesting a very dire prognosis. In his case, gene sequencing revealed an immediate course of action: two errors linked to melanoma that cause cells to grow far more rapidly than they should. Three years after Cano's doctors started him on an experimental drug regimen that targets both glitches, which Cano, now 48, will take indefinitely, his tumors are gone.
President Obama unveiled a $215 million Precision Medicine Initiative to help find genetic causes of disease.