Share11 October 2019It is the first time that a drug is designed and developed for a single person, in order to cure a very rare genetic defect. It took only a year to reach the result, according to a study published in the New England Journal of Medicine: researchers at Boston Children's Hospital went from identifying the DNA defect to testing on the girl suffering from a rare disease, which gave positive results.
The case is that of a six-year-old girl suffering from a rare disease - Batten's disease - that damages brain cells and leads the patient to death. The researchers, led by neurologist Timothy Yu, have implemented a completely new approach to the child. They first examined his DNA in search of the single genetic mutation that is responsible for the disease and then, after having identified it, they also built the drug that allowed to correct the effects induced by the specific mutation.
The drug was named "Milasen" in honor of the girl for whom it was designed, Mila Makovec, who is now eight years old and seems to be definitely better. After one year of treatment "No serious adverse events occurred and treatment was associated with objective reduction of convulsions (determined by electroencephalography and parental signaling). This study offers a possible model for the rapid development of personalized treatments for patient "reads the article published in the prestigious scientific journal