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Livermore Biomedical Scientists Help International Team
Find Kidney Disease Gene
DOE's investment in building a highly
detailed human genetic roadmap for Chromosome 19 is paying off. For
the second time in three months, Lawrence Livermore National
Laboratory (LLNL) scientists have teamed with international
collaborators (this time at the Karolinska Institute in Stockholm,
Sweden and the University of Oulu in Oulu, Finland) to pinpoint the
location of a gene on chromosome 19 responsible for causing a disease,
congenital nephrotic syndrome, a deadly kidney disease. The disease
usually leads to death by age 2. This particular form of kidney
disease is most prevalent in Finland, striking about one in 10,000
children. "What is particularly important about this gene find," said
LLNL biomedical scientist Anne Olsen, "is that the mutated protein
that's been found may be a key to how the human kidney filtration
process works. It may have relevance far beyond this disease by
offering insights into what happens with other kidney ailments." The
discovery has already permitted the development of a diagnostic tool
to test for the gene in parents who may be carriers of the disease,
the paper's authors reported.
ER Contact: Dan Drell, ER-72, (301) 903-4742
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Last modified: Wednesday, October 29, 2003
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