Professors Adrian Bird of the University of Edinburgh and Huda Zoghbi of the Baylor College of Medicine won the Shaw Prize in life science and medicine for their discovery of the genes and encoded proteins associated with the developmental neurological disorder Rett syndrome.
Rett Syndrome in early 1966, has been identified as a gene mutation disease. Patients are mainly female, the patient's body functions will be rapidly degraded, the peak in the learning of children will be getting unable to speak, cognitive disorders, distorted limbs, ultimately, cannot self-care and walking. Huda Zoghbi discovered Rett Syndrome is a genetic disease in 1999, the source of the mutant gene called MECP2, only through genetic testing can diagnose.
Professors Adrian Bird of the University of Edinburgh (left) and Huda Zoghbi of the Baylor College of Medicine (right)
The two scientists are now further study of gene therapy; the next step will be recruiting patients for clinical testing. In Hong Kong, a Rett Syndrome Patients – Ka Yan, her mother is feeling excited, hoping to have a cure in the future and reduce drug costs.
Hong Kong's small Rett Syndrome patients, one of whom was aged 22 Ka Yan, a day on 20 years ago, she was lovely and could speak like other children, suddenly the called parents as " brother, sister, " and gradually appear hand-wringing action. Even a simple instruction to the deterioration cannot be completed, her the mother described as the" beginning of a nightmare. "
Existing treatments only slow the degradation and parents did not dare to hope
However, Ka Yan’s mother admitted that over the years the disease has been "No medicine “, treatment methods are physical, and speech therapy and other functions which can only delay the degradation. For many parents, it is not a different for the earlier or later diagnosis time. Even in recent years, the United States appeared two kinds of newly developed drugs, but is still in the clinical testing phase. Ka Yan’s mother bluntly: "That drugs requires hundreds of thousands dollars a month," but only have the same delaying effect of degradation.
She can feel nothing to change the current situation but she still insisted on the Hong Kong Rett Syndrome Association 3 years ago. Patient enrollment of only 18 people so far.
Website: http://www.hkrett.org/
Source ：HK01