#rare-disease-diagnosis

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Medicine
fromPsychology Today
1 day ago

The Process of Being Diagnosed With a Rare Condition

Sphincter of Oddi dysfunction is a rare condition affecting digestive juice flow that causes severe abdominal pain and is often overlooked in medical diagnosis despite being treatable.
Medicine
fromNature
1 month ago

How DeepMind's genome AI could help solve rare disease mysteries

AlphaGenome uses AI to predict effects of non-coding DNA mutations, helping interpret previously triaged variants and aiding diagnosis of undiagnosed rare diseases.
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