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.

Deep-learning algorithms could help doctors narrow in on the causes of certain medical conditions, say researchers.

The medicine increases the activity of a deficient enzyme in certain patients with the condition.

The UK-based organization encourages public debate about the issue but does not recommend immediate policy change.

The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 

Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.