Researchers identify genetic variants that lead to a severe developmental syndrome. The findings could mean better screening and diagnosis for patients with inherited syndromes.

A tool borrowed from bacteria successfully seeks out, cuts and destroys long stretches of human cells’ DNA, opening doors to new uses in research and treatment.

A Michigan Medicine professor and a U-M medical student created an app to help patients manage HHT, a systemic blood vessel disorder characterized by excessive nose bleeding.

Regulation of genes by noncoding DNA might help explain the complex interplay between our environment and genetic expression.

Advances in gene therapy are yielding new options for treating inherited retinal degenerations, giving specialists new tools — and new hope for patients and families.

With the help of a new human embryonic stem cell line, researchers make initial strides toward treatment for the genetic mutation.