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.

Preliminary data from Sarepta Therapeutics has exceeded expectations, causing a surge in company stock prices this week.

Doctors treated the fetus, who has alpha thalassemia major, with cells from her mother’s bone marrow.

Biotechs have developed enzyme replacements and genetically modified probiotics to treat patients with the rare metabolic disorder.

As the first personalized cell and gene therapies are approved from small clinical trials, researchers propose the creation of publicly accessible databases to pull together real-world results.  

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

Researching the rare, but all-too-common, disease of gun violence in America will take a concerted political effort.

Take a break from the bench to puzzle and peruse.

Selected rare-disease Images of the Day from the-scientist.com

Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.

The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.