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

The success of a 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, at least for those patients with either of these specific faulty genes? Does it seem likely that a gene therapy for just one of these genes (as a patient is affected by it) might be curative?

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?

How much would a genetic study similar to the 2012 study cost?

 

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