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How Artificial Intelligence Is Transforming Medicine


Is artificial intelligence capable of changing and driving a revolution in medicine? Artificial intelligence is evolving rapidly. As it continues to improve, researchers believe it could help doctors diagnose diseases earlier, identify harmful genetic mutations more accurately, and develop personalized treatments. While AI is unlikely to replace physicians, it is becoming an increasingly valuable tool in modern medicine. AI has been used to edit genes, and the results have shown potential. 


One of the earliest breakthroughs in computational biology came from David Baker's lab, where Top7 became one of the first proteins to be designed entirely by computers. Researchers also developed Rosetta, a computer program capable of predicting and designing protein structures. Although early versions of Rosetta had limitations, the software laid the foundation for many of today's advances in protein design and AI-assisted drug discovery.


Humans have thousands of genes that provide instructions for building proteins, which help the body function properly. Sometimes, small changes in these genes, called genetic variants or mutations, occur. While many of these changes are harmless, some alter the structure or function of proteins, increasing a person's risk of developing diseases such as cancer, cystic fibrosis, or certain heart conditions. Identifying which genetic variants cause disease is essential because it allows doctors and researchers to diagnose conditions more accurately, predict a patient's risk, and develop targeted treatments.


To address this problem, researchers at Harvard Medical School developed popEVE. This artificial intelligence model analyzes genetic variants using information from protein sequences, human genetic data, and evolutionary patterns across species. Unlike earlier AI models, popEVE can compare variants across different genes, helping researchers determine which genetic changes are most likely to cause disease. When researchers tested popEVE, it successfully distinguished disease-causing variants from harmless ones and helped diagnose about one-third of previously undiagnosed patients with severe developmental disorders. It also identified 123 genes linked to developmental disorders that had not been recognized before, with 25 of those genes later confirmed by independent research. By helping doctors identify disease-causing mutations more quickly and accurately, AI models such as popEVE have the potential to improve diagnoses, guide treatment decisions, and accelerate research into rare genetic diseases.


As artificial intelligence continues to evolve, its role in medicine will likely expand even further. Rather than replacing healthcare professionals, AI is becoming a powerful partner that can help researchers make discoveries faster and provide physicians with better tools to deliver more precise, personalized care.


Thank you for reading,

Eric Zheng


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