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- DISEASE ADVANCES

AI and lab tests combine to predict disease risk from rare genetic variants

When genetic testing reveals a rare DNA mutation, doctors and patients are frequently left in the dark about what it actually means. Now, researchers at the Icahn School of Medicine at Mount Sinai have developed a powerful new way to determine whether a patient with a mutation is likely to actually develop disease, a concept known in genetics as penetrance.

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‘Eye-on-a-chip’ reveals trigger for steroid-induced glaucoma

The eye, like most organs, has an intricate plumbing system. Pressure builds when drainage is impaired, and this condition—glaucoma—can cause irreversible vision loss. Certain popular anti-inflammatory eye medications that contain steroids can in some cases compound the problem, although scientists have been at a loss to understand why.

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