The crisis facing rare disease and disability families in Connecticut is caused by systemic underinvestment, administrative barriers, and policy choices.

You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...