Why people die, suffer various ailments, diseases and much more

Breakthroughs on diseases...
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Breakthroughs put diseases on the back foot
24 December 2017 - It has been a remarkable year of promise in medical science.
Incurable diseases from sickle cell to haemophilia now look as though they can be treated. Here are the highlights.

Huntington's

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Peter has Huntington's disease and his siblings Sandy and Frank also have the gene​

The defect that causes the devastating degenerative disease Huntington's has been corrected in patients for the first time. It has been called the biggest breakthrough in neurodegenerative diseases for 50 years. The disease is caused by an aberration in a section of DNA called the huntingtin gene. The error corrupts a healthy protein and turns it into a killer of brain cells. The therapy silences the gene by blocking the messages it sends to the cell's protein-making factories. The study has generated a huge amount of excitement. It could be the first treatment to slow or prevent any degenerative brain disease.

New skin

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Hassan has been given a new genetically modified skin that covers 80% of his body. He was born with a genetic disease called junctional epidermolysis bullosa that leaves his skin as fragile as a butterfly's wings. A piece of his skin was taken, its DNA was repaired in the laboratory and the modified skin grafted back on. After nearly two years, the new skin appears completely normal.

Haemophilia

Doctors say they have achieved "mind-blowing" results in an attempt to rid people of haemophilia A. The disease is caused by a genetic defect that means they do not produce a protein needed to stop bleeding. Thirteen patients, including Jake Omer, were given the gene therapy at Barts Health NHS Trust. All are now off treatment with 11 producing near-normal levels of the protein.

Heart
 

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