Diagnosing Disease with a Snapshot

Diagnosing Disease with a Snapshot

Many genetic conditions have a “face”—a distinctive constellation of features that provides a clue to a potential diagnosis. But identifying disease by observing a patient’s features, a practice known as dysmorphology, is one of geneticists’ biggest challenges. The most skilled dysmorphologists tend to be older doctors who’ve been around the block, which makes sense; the more patients you see over a lifetime, the more features you observe. But even the most experienced practitioners haven’t laid eyes on every disease out there…

Source: MIT Tech Review

Plus

Leave a reply