A puzzling multisystem disorder leads to discovery of a new genetic syndrome, and an end to families’ "diagnostic odysseys."

A new CHOP study has uncovered several gene networks with potentially important roles in autism. These networks may offer attractive targets for developing new autism treatments.

Pedigrees are diagrams showing how inherited diseases occur in a family. The CBMi’s new app lets genetic counselors draw pedigrees with a few finger taps during a patient encounter.