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

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.

Rarity is a strength, not a weakness, when lessons learned from rare disease patients buoy research and development to find cures for more common diseases.