The first in the world experimental drug reversed the symptoms in seven year old girls. She was suffering from an incurable disease that caused paralysis, blindness, dementia and death priblizava.
Small resident of the city of boulder, Colorado Mila Makovec was born happy and healthy, but soon she was having trouble walking, development of the child was broken, she began to go blind. Only 6 years old she was diagnosed with batten disease – a very rare genetic disorder. In this disease the cells can’t properly get rid of waste products, which causes neurological problems. The disease quickly robs its victims of mobility and speech, and death typically occurs before adolescence. That’s what the doctors told his parents of the baby who was already preparing for the inevitable.
But now in their lives there is hope with the new medication, specially made for the impact of a genetic mutation Nice. This drug was so powerful that her symptoms have already begun to recede. Created a cure, scientists are encouraged by the results, because although victims of the disease, batten and the previously observed easing of symptoms under the influence of different kinds of drug regimes, and no one mentioned such a powerful progress. Researchers from the University of Texas hope that we were able to approach the creation of the first methods of treatment of this disease.
In the world of batten disease suffers from 14,000 children. Initially, diagnosis can be difficult because so many doctors about this disease never even heard of. The disease is considered incurable, there are no approved clinical methods of therapy. Order it is apparent, the child will need two copies of the gene, called CLN7 from each parent, and in a mutated form. American scientists decided to try a drug called antimyeloma oligonucleotide, which recently received approval. It binds to defective RNA and hiding them, forcing the cells to produce the correct proteins. (READ MORE)