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.

Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.

The disorder, called X-linked hypohidrotic ectodermal dysplasia, leaves patients unable to produce sweat, which can be life-threatening.

The 44-year-old patient has Hunter syndrome, which doctors hope to treat using zinc finger nucleases.