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Disease Connection

Researchers are studying parents of children with the fatal, rare genetic disease Niemann-Pick Type C to try to glean insight into the Ebola virus, which uses the protein encoded by NPC1 — the gene involved in NPC — to enter cells, the Wall Street Journal reports.

It adds that researchers have found that mice with one normal copy of the NPC1 gene are more likely to survive Ebola infection than mice with normal two copies of the gene die. Mice lacking any normal copy of NPC1 all survived.

By studying cells from parents who are NPC disease carriers, researchers hope better understand how changes to the NPC1 gene affect Ebola risk. Albert Einstein College of Medicine's Kartik Chandran tells the Journal that researchers don't yet know why mice with changes to their NPC1 gene survive better. It could be, the WSJ notes, that lower NPC1 leads to fewer infected cells in the body or that lower NPC1 levels somehow enable the immune system to better fight infection.

Such work, Einstein's Steven Walkley says, "shows the value of the study of rare disease."

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