Aug. 5, 2021
In the seven difficult years since their son Mateo was diagnosed with a rare disease, Victoria Malvagno and Frank Solorzano have been waiting for medicine to catch up with their lives.
Doctors tested Mateo for hundreds of conditions before they finally determined he was one of only a few hundred people in the world with a neurodevelopmental condition called ADNP syndrome. Even with a diagnosis in hand, just getting through each day has been a full-time job. Mateo communicates mostly nonverbally, and his parents must constantly be on alert to make sure he doesn’t hurt himself. For years, they have muddled through managing his many symptoms piecemeal, because there’s no treatment approved for the rare genetic disease.
But in 2019, a breakthrough came — not from a doctor’s office, or a drug company, or another battery of tests. It came from an artificial intelligence system. The tool, called mediKanren, scanned millions of biomedical abstracts hunting for relationships between existing compounds and the gene involved in the disease.
About the Author
Create a display name to comment
This name will appear with your comment
