Imagine reading a book letter by letter instead of chapter by chapter. Focusing solely on the alphabet would make it challenging to develop a holistic understanding of the work's plot, characters and themes.
For decades, scientists have been searching human DNA for markers related to Alzheimer's disease in much the same way.
"Your DNA has 3 billion letters," says Paul Thompson, professor and Popovich Chair in Neurodegenerative Diseases at the Keck School of Medicine of USC. "In traditional genome sequencing, every single letter of the genetic code is assessed one at a time - without much big-picture understanding."
Traditional methods have led to discoveries of genes such as APOE ε4 that strongly contribute to Alzheimer's risk. But now, a powerful artificial intelligence tool developed by Thompson and his collaborators - called a "genomic language model" - will enable the detection of more subtle influences across thousands of genes at once. These discoveries, in turn, will guide the development of new drugs that can target genetic defects to treat or even prevent Alzheimer's.
"Genomic language models screen the whole gigantic 'book' of DNA from hundreds of thousands of people," Thompson says. "The model will find more complex patterns that drive brain aging and specific biological processes - very complex patterns that no human could identify."
Thompson directs the ENIGMA Consortium, a USC-based global network of researchers using imaging and genomics to advance knowledge about brain diseases. ENIGMA's AI4AD (Artificial Intelligence for Alzheimer's Disease) initiative focuses on using AI methods to tackle key challenges in Alzheimer's research.
The initiative is one of many research endeavors led by USC researchers that leverage AI and other advanced computing technologies to accelerate Alzheimer's discovery. These software and hardware innovations are opening new horizons for better understanding of this complex disease, earlier and more precise diagnostic methods, faster drug discoveries and novel treatment options. Alzheimer's researchers' cross-disciplinary embrace of AI demonstrates one of USC President Beong-Soo Kim's top priorities: for the university to lead and innovate in the AI space.
"It's like having a new telescope to survey the universe," Thompson says of AI. "There's this whole new landscape of discoveries possible."
