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Artificial intelligence jump starts clinical trial for rare genetic disease

Matt and Anna Davis, with son Benjamin. Credit: Matt Davis

It was a pretty simple e-mail. Just a couple of lines. “It looks like low-dose ketamine is an up-regulator for ADNP. Do you think this makes sense for ADNP patients?”

Matt Might sent that e-mail to Matt Davis on Feb. 18, 2019. Might is the director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham School of Medicine. Davis is chief resident in the Department of Neurosurgery at UAB and the father of Benjamin, a child with a developmental delay caused by a variant in the ADNP gene.

And that e-mail was the first step toward a just-launched clinical trial that may make a world of difference for children like Benjamin.

The condition

Variants in the ADNP gene are thought to be one of the single largest genetic causes of autism and neurodevelopmental disorders. Children born with ADNP syndrome have one healthy copy of the ADNP gene and one broken copy. The healthy copy produces the ADNP protein, which is essential for proper neurologic development, while the broken copy does not. As a result, the child does not get enough ADNP protein for normal development.

Benjamin’s a good example. He’s three now and was diagnosed just before he turned one. His hearing was affected, followed by slowed speech development. He has some fine motor skill delays, and other developmental issues.

“Through all that, he’s a happy, active three year old,” said Davis. “But as a physician, I wanted to do all I could to find a way to treat or reverse this condition.”

The tool

Enter Matt Might. Might is a computer scientist by training who made himself an expert in precision medicine following the birth of his son Bertrand. Bertrand has a rare genetic

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