Rare disease

Fixing Friedreich’s Ataxia

Four years ago, Tom and Karen Hamilton received a devastating diagnosis. A doctor informed them that their nine-year-old daughter’s slight clumsiness—which they’d tried treating with physical and occupational therapy—was neurological, not physical. Specifically, Annie suffered from a rare, progressive, and currently incurable disorder known as Friedreich’s ataxia (FA).

A Helpful Handbook to the Human Genome

Each cell in our bodies contains a sequence of DNA that is uniquely ours. This sequence is made up of four kinds of chemicals, known by the letters: A, C, G, and T.

The Muscle Detectives

When he was 19, Monkol Lek felt what it was like to be paralyzed.

A doctor had prescribed him a relaxant for his weak and aching muscles. The relaxant briefly rendered Lek immobile. “I remember lying there, not being able to move,” he recalled.