A collaboration between ARC Innovation at Sheba Medical Center, Icahn School of Medicine at Mount Sinai and NVIDIA will use the power of artificial intelligence (AI) in a bid to better understand the unexplored regions of the genome.

The three-year collaboration will see the groups work together to create an AI-driven genomic research engine capable of identifying patterns and regulatory mechanisms that link genetic variation to disease risk and therapeutic response.

The goal is to pioneer the decoding of the majority of the human genome that remains poorly understand. Ultimately this could help unlock new pathways for disease prevention, diagnosis and treatment.

The initial focus of the project will be on areas of medicine where genetic complexity has proved a barrier to progress. The platform will analyse the interplay of thousands of genomic regions to help researchers identify underlying mechanisms that contribute to disease and to uncover potential therapeutic targets.

AI is key

“While approximately 2% of the human genome has been thoroughly characterised, the remaining 98%, which was once labelled junk DNA, is increasingly recognised as containing critical regulatory and functional elements,” said Professor Gidi Rechavi, Israel Prize laureate, Head of the Sheba Cancer Research Center and the Wohl Institute of Translational Medicine, and initiator of the project. “Moreover, when individual genomes are sequenced, significant differences are observed. The genomic LLM approach at the heart of this pivotal collaboration aims to decipher the basic function of human genomic sequences and to enable the use of their variability as a key to diagnosis and future therapy.”

“This collaboration is an important step toward a future where every person can benefit from the power of whole genome sequencing,” said Dr Alexander Charney, , Director of the Charles Bronfman Institute for Personalized Medicine, Vice Chair, Windreich Department of Artificial Intelligence and Human Health, and Associate Professor of Artificial Intelligence and Human Health, Psychiatry, Genetics and Genomic Sciences, and Neuroscience at the Icahn School of Medicine at Mount Sinai. “By bringing advanced AI into genomic research, we’re moving closer to making personalised, precision medicine a reality for all.”

“AI has the power to unlock the secrets of the human genome and transform health care for billions of people worldwide,” said Dr. Nati Daniel and Dr. Yoli Shavit, Applied AI Architecture at NVIDIA. “The development of a state-of-the-art Genomic Foundation Model (gFM), brings together clinicians, geneticists, bioinformaticians, and AI researchers to tackle one of science’s greatest challenges with NVIDIA’s full-stack AI platform.”