Appeal No. 2001-0407 Page 9
Application No. 08/460,215
The fact that the APKD phenotype manifests itself even in the presence of
a copy of the wild-type gene means that, even though some normal gene product
is present, an individual having a PKD1 mutation will develop APKD. This
suggests that APKD is not caused simply by the absence of functional PKD1
gene product. The record contains no evidence to show that PKD1 mutations
cause APKD by “merely caus[ing] the level of the PKD1 protein to diminish below
a threshold level necessary for normal function.” The specification does not
disclose the in vivo role of the protein encoded by the PKD1 gene, nor does it
disclose the enzymatic activity (if any) possessed by the protein, or the degree of
similarity between the PKD1-encoded protein and other known proteins, or even
the amino acid sequence of the PKD1-encoded protein.
The specification provides no working examples showing effective
treatment of APKD by expressing increased amounts of the wild-type gene. Nor
does the specification provide detailed guidance that would lead those skilled in
the art to expect that additional PKD1 expression would provide an effective
therapy for APKD. In fact, the only guidance the specification provides regarding
the claimed method is that
All or part of the normal PKD1 gene . . . can be delivered to kidney
cells or other affected cells using a variety of known methods,
including e.g. liposomes, viral vectors, recombinant viruses, and the
like. The gene can be incorporated into DNA vectors that
additionally comprise tissue-specific regulatory elements, allowing
PKD1 expression in a tissue-specific manner. . . .
. . .
For therapeutic uses, PKD1-related DNA may be administered in
any convenient way, for example, parenterally in a physiologically
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