Amazon, 2 health systems ID rare diseases with AI

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Two health systems are working with Amazon Web Services to uncover rare diseases with the help of AI.

After receiving $1 million from AWS for research, Washington, D.C.-based Children’s National Hospital developed AI technology to analyze smartphone camera images to detect subtle changes in infants’ facial features, discovering rare genetic disorders early on.

Meanwhile, San Diego-based Rady Children’s Hospital, a recipient of AWS’ $10 million Children’s Health Innovation Award program, is deploying large language models to speed up diagnoses and offer genomics testing to kids who need it most.

“Leveraging AI and cloud computing is a critical step as we work towards making genetic testing more equitable, inexpensive, and widely available,” said Matthew Bainbridge, PhD, a supervising research scientist at the Rady Children’s Institute for Genomic Medicine, in a Feb. 19 AWS blog post. “Working with AWS allows us to utilize their expertise in AI and cloud computing to improve the speed and access to pediatric genetic testing, ultimately shortening a child’s diagnostic odyssey.”

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