Pentalogy of Cantrell (07:37)
Virsaviya was born with her heart outside her ribcage. Doctors predicted a short life span, but she has persevered. Dr. Robert Adelstein discovered that myosin genes can affect the placement of the heart in embryonic development; he hopes to learn how these genes interact with others.
Brain Without Oxygen (05:02)
While most humans would die without a flow of oxygen in the brain, Veljano Zanki can hold his breath for nine minutes. As a record-breaking freediver, Zanki inspired physiological study of the mammalian diving response. Professor Zeljko Dujic discovered that in extreme low-oxygen circumstances, the muscles between the ribs and diaphragm spasm quickly, pushing blood to the brain.
Fibrodysplasia Ossificans Progressiva (09:09)
Jeannie Peeper grows new bone over her skeleton and where soft tissue should be, making her joints and body rigid. She formed a self-help group to connect people with this rare condition. Fred Kaplan discovered that patients have too much of a protein that assists in producing bones, and this was caused by one incorrect gene.
Mandibular dysplasia is characterized by a lack of fat under the skin, and in the case of Tom Staniford, a redistribution of fat around internal organs. Professor Andrew Hattersley discovered a single common gene which affects the distribution of fat. To manage his disease, Staniford exercises consistently and eats a healthy diet.
Polycystic Ovary Syndrome (05:35)
Harnaam Kaur developed facial hair at age ten as a result of a hormonal imbalance caused by genetic abnormality. Although she has been bullied throughout her life, and tried to remove unwanted hair, Kaur decided to embrace her beard and use it to empower others. Professor Stephen Franks studies genes in thousands of women, and found surprising connections.
Phantom Limb (07:59)
Professor V. S. Ramachandran studies how injuries can change connections in the brain. After an amputation, many people still feel pain in their missing limb. Ramachandran discovered that the brain tries to heal damaged connections by making new connections with other parts of the body. Using mirrors, patients can heal these connections by re-associating the sight of their limb with commands from the brain.
After Ian Burkhart lost control of his arms and legs, doctors thought restoring the connection between brain and body was impossible. Nick Annetta, in collaboration with neurosurgeon Ali Rezai developed a neural bypass operation to create a detour around the injured part of the spinal cord. Computers read signals from the chip associated with movements; Burkhart gradually regained most movements.
Credits: A Design For Life (00:40)
Credits: A Design For Life
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