This story highlights a young Korean boy who uses his pseudonym Yeong-ho. Yeong-ho was diagnosed with USH2A at Seoul National University Hospital as a newborn. A professor at the same hospital learned of Yeong-ho’s diagnosis and wanted to develop a tailored genetic therapy that would help him. This professor identified the genetic change causing Yeong-ho’s USH2A syndrome and is working on developing a unique treatment to correct this change. Although it might be many years until the genetic therapy is ready for Yeong-ho, his mother is thankful that there are scientists working on it which provides some hope for her son in the future.
What this means for Usher syndrome: Since many different genetic changes can cause Usher syndrome, developing a "one-size-fits-all” therapy is challenging. This is an example of a personalized medicine being developed for a specific mutation in the USH2A gene. Although this therapy would not be able to treat all USH2A patients, it could be used for others who have the same mutations as Yeong-ho.
