If anyone has extensive knowledge about genetics, perhaps you can answer some of these questions:

The success of gene-based therapy first begins with a well-defined disease gene. So, now that the MVK gene and the SLC17A9 gene have been identified, the question is, are these 'well-defined' genes?

How do we know that DSAP isn't a monogenic disorder, or at least in cases where the MVK gene and/or the SLC17A9 gene have been identified?

2000 study

2012 study

Mutations of the MVK gene have been found in up to one third of DSAP cases. The 2012 study says that the MVK gene discovery is just a "step toward discovering the genetic pathogenesis of DSAP, and sheds light on its further molecular diagnosis and treatment." What additional research needs to be done? For example, in patients who have the MVK mutation, must nucleotide polymorphism(s) be identified, or in theory, couldn't the entire MVK gene be replaced?

How much might the Chinese genetic studies have cost?

Who is funding these Chinese studies and why?

Would you expect the Chinese to be forthcoming with regard to these types of studies, or might they be keeping a lid on studies so that they can enjoy the financial benefits from their genetic research?

Do the Chinese ever, or are they likely to partner with the US on studies?

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