A review of 36 individuals’ sequencing results performed by three US labs finds thousands of genes that were never fully sequenced to industry standards.

The animals lived longer and showed milder symptoms than untreated mice, although they didn’t survive as long as wildtype mice.

Meet some of the people featured in the September 2019 issue of The Scientist.

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.

Geneticist and profilee Hoda Zoghbi describes her work on rare diseases.

The genetically engineered probiotic, already in clinical trials, may ease patients’ strict dietary regimes.

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

Alnylam’s patisiran interferes with the production of a mutated protein present in people with hereditary transthyretin amyloidosis.