We're still a long way from developing a gene therapy to alleviate the disease, but this gives us direction. We're not wandering blindly anymore. To help those threatened by PKD understand its genetic implications, Hopkins has opened a multidisciplinary hereditary renal disease clinic, directed by Terry Watnick, M.D., to which Germino serves as consultant. But genetic testing also adds to the complexity of diagnosis and management of these patients and their families.
Patients also have access to new and experimental therapies as soon as they are available.
The PKD1 gene is large and complicated, and extensive molecular studies are necessary to understand how it works, Germino says. In taking on that challenge, he admits he is propelled in part by intellectual curiosity, but even more by patients with the disease. If you talk to people with polycystic kidney disease, you can see clearly that they suffer.