Aorta Reinforcement (06:59)

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Engineer Tal Golesworthy developed a polyester sleeve to support his bulging aorta. Marfan syndrome is caused by a deficiency in fibrillin. With the help of cardiac surgeon Tom Treasure, Golesworthy modeled a mesh sleeve based on scans of his aorta and doctors successfully inserted it.

Alkaptonuria (06:49)

Nick and Sonya's two children have a mutation in one gene that causes the production of homogentisic acid. The acid turns joints black, hardens cartilage, and calcifies heart valves. Nick, with the help of Lakshminarayan Ranganath, carried out clinical trials of nitisinone, which proved successful in reducing homogentisic acid.

Erythermalgia (08:49)

Pamela Costa maintains her environment at a cool temperature because she has a severe reaction to heat that causes burning pain. Pain begins with an electrical impulse traveling along nerve fibers by way of sodium channels. Neurologist Stephen Waxman discovered several mutations in a particular sodium channel that he hopes will shed light on a new treatment approach.

Osteogenesis Imperfecta (07:17)

While developing in the womb, Adam's bones fractured as a result of a mutation in the gene that codes for collagen. Doctor Cecilia Götherström developed a method of injecting healthy stem cells into a fetus. The treatment was successful, though Adam's legs were deformed from previous fractures.

Multiple Sclerosis (06:43)

When his immune system began to attack his brain, Steven Storey lost his ability to walk and take care of himself. Basil Sharrack hypothesized that replacing the diseased immune system with a healthy one could heal Storey. He collected healthy stem cells, destroyed diseased bone marrow, and reintroduced the stem cells; Storey began to regain movement.

Synesthesia (06:08)

James Wannerton experiences words as tastes. Through MRI scans of his brain, Jamie Ward discovered how one sense triggered a physical sensation in another. He is developing ways to use this information to help people with sensory impairment.

Antibodies Attack Brain (07:25)

Emily Gavigan began experiencing paranoia and aggressive behavior, and doctors diagnosed her with a psychiatric illness, but then she collapsed. Her father convinced doctors to transfer her to a hospital in Pennsylvania, where she was diagnosed with NMDA receptor antibody encephalitis. She began treatment to remove antibodies and suppress her immune system.

Credits: Discovery (00:40)

Credits: Discovery