Learn about the underlying causes and mechanisms behind liver pathophysiology.

Two new medications for treating a rare and deadly neuromuscular disease have high prices and questionable efficacies, say scientists.

Trophoblasts, collected from the mother during a blood draw, can determine fetal genetic abnormalities currently diagnosed through amniocentesis or chorionic villi sampling.

Despite a solid understanding of the biological basis of fragile X syndrome, researchers have struggled to develop effective treatments.

Variation in the number of CGG repeats in the FMR1 gene at the bottom of the X chromosome can lead to increased levels of mRNA or decreased levels of protein—both conditions that cause disease.

Robert Guthrie’s blood test for the metabolic disorder phenylketonuria launched a worldwide movement to screen every baby for the disease soon after birth.

Researchers report they’ve found a way to restore immune function in infants with one form of “bubble boy disease.”

A number of rare diseases show unique epigenetic patterns across the genome, a feature researchers have now exploited to build a diagnostic tool.