Swarthmore scientist Ben Prosser devoted 10 years to heart failure research, then shifted gears suddenly in August 2018 when his daughter Lucy was born with a rare disease.

Now an anonymous donor has given $25 million toward his work, writes Tom Avril for The Philadelphia Inquirer. 

Baby girl Lucy was born with a rare gene mutation, preventing the manufacture of a critical protein, causing erratic signals to her brain, triggering seizures, and affecting basic skills like walking and talking.

Prosser joined up with two scientists at the Children’s Hospital of Philadelphia to look into his daughter’s neurodevelopmental disease.

The $25 million donation will go toward a joint center at Penn and CHOP studying Lucy’s condition and related disorders. The three scientists hope to start testing treatments within two years.

The Prossers have stopped Lucy’s seizures with an extreme Ketogenic diet, opening up her world.

“I didn’t know if she was ever going to know that I’m her mom,” Erin Prosser said. “Now, she knows we’re her people.”

But Lucy’s underlying disorder remains, affecting her basic skills. 

The scientists are focusing now on gene editing techniques to restore the key protein she needs.

Read more about Ben Prosser and Lucy in The Philadelphia Inquirer.

Ben Prosser talks about his STXBP1 research at the 3r Annual Synapse Roundtable.