Boston Children's Hospital
Mila was three when her right foot began to turn inwards. A year later she needed to hold books close to her face as her vision was fading and by the age of five she would occasionally fall and her walk became unusual.The disease can be caused by a range of genetic mutations that stop cells being able to break down and recycle waste.Mila's family had been given a diagnosis of Batten disease and they knew it was genetic.
He believes that if in future cases it is possible to intervene even earlier - when a child is three or four - that"could really make a big difference".The approach used is incredibly clever and required a precise understanding of exactly what was going wrong. To get from DNA to a protein there is a stage in the middle - a messenger is created that takes the instructions from the DNA in a cell's nucleus to the site where proteins are made.Not all of the genetic code in a section of DNA is copied over into the mRNA - parts are cut out in a process known as splicing.
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