Wei Xu
Wei Xu is a Chinese father, with a high school education, who made self-pharmaceuticals in order to treat his 2-year-old son. His son（Haoyang Xu) was diagnosed with Menkes disease syndrome when 9-month-old.
Personal Experience
When his son was 6 months old, the baby's development was slower than that of his peers, for example, he could not raise his head, eat his hands, or roll over, but the doctor could not find out the reason.[1] The diagnosis of Menkes disease was confirmed after whole exome sequencing was done to determine if it was caused by a gene mutation. [Menkes disease is caused by mutations in the ATP7A gene that is responsible for the transport of copper throughout the body, serious and fatal effects can ensue overtime related to the function of the copper-dependent enzymes that control the development of hair, brain, bones, liver, and arteries.[2]In general, such mutation disables the expression of the ATP7A gene, which causes a disorder of copper metabolism. Since the mutation takes place on X chromosome|X chromosomes, newly born male children are more likely to get affected by this rare congenital disease. According to a recent study, approximately 1 in 300,000 newly borns have this disease.[3]
Usually,copper histidineis regarded as an effective early treatment for such disease, but due to some special reasons, Wei Xu is not able to get it from the market. But the baby's father, who only has a high diploma and little knowledge about biochemistry and English didn't want to give up, he read the research papers with the translator day by day.[4] Actually, the synthesis of copper histidine is far from difficult, the biggest challenge is to keep the whole process in a sterile environment, especially for someone who doesn't have any biochem background. After 3 months of preparing and consulting many experts and doctors. Wei Xu rent a lab and successfully synthesized the copper histidine, due to his effort the baby's symptoms were relieved a lot.
Recent Event
On June 29, 2020, Wei Xu first replied to the public after being exposed by the local media, he shared the latest pictures of his son on Weibo and answered people's questions. Injecting copper histidine can only relieve the symptoms, so gene therapy is the next goal of Wei Xu. But gene editing is far more difficult than synthesizing copper histidine, Xu Wei realized that gene therapy is not the kind of stuff that he can handle all on his own. So he decided to cooperate with pharmaceutical companies. From the preparation of the compounds while Wei Xu has been working on a program of gene replacement therapy mediated by Adeno-associated virus. After more than 1 year of effort, Xu Wei finally shortened the sequence of the ATP7A gene by analyzing the structural domain of the protein and constructing the plasmid, which has been verified in HEK 293 cells for expression and biological activity. He hopes that the relevant Adeno-associated virus vector experts can help to answer some questions, and he also hopes that the relevant animal experimental institutions can provide some support for the subsequent safety testing. However, Adeno-associated virus gene replacement can only solve the genetic problems of some organs with slow renewal cycles. The ultimate in vivo gene editing is the most complete treatment. He wants to devote to the research of the prime editor's gene editing tools after the gene replacement treatment, because his child's mutation is a repeat mutation with an extra A base inserted at position 1141 of the ATP7A gene sequence, resulting in an early stop codon and blocked protein translation. So he wants to excise the extra A base by Prime editing, and he is considering using the child's skin fibroblast in vitro culture as a model cell, design the RNA for Prime editing according to the mutation site, and verify the editing efficiency by constructing plasmid in vitro.[5]
References
External links
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