inherited disease

A first-of-its-kind gene therapy dramatically reduced misfolded protein levels in some clinical trial participants for up to six months and reduced levels in all participants for up to a year.

He famously identified the genetic mutation that causes the condition in 1991.

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

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.

Victor McKusick’s pioneering investigations provided insight into hereditary disorders.

Spark Therapeutics’s Luxturna would be the first approved therapy in the U.S. that replaces or repairs a defective gene inherited from one’s parents.

Family members with a certain gene variant had unnecessary interventions, highlighting the potential hazards of precision medicine.