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Off mice and men
Personalized disease models will speed up and open up rare disease drug discovery. Our collective experiment in government-cultivated biomedical research — the National Institutes of Health, or NIH –...
View ArticleNpc1 acting in neurons and glia is essential for the formation and...
Cholesterol availability is rate-limiting for myelination, and prior studies have established the importance of cholesterol synthesis by oligodendrocytes for normal CNS myelination. However, the...
View ArticleA Drosophila model of the Niemann-Pick type C lysosome storage disease:...
Niemann-Pick type C (NPC) disease is a fatal autosomal-recessive neurodegenerative disorder characterized by the inappropriate accumulation of unesterified cholesterol in aberrant organelles. The...
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Genus envy
In 1997, a breakthrough was made in rare/orphan disease research. An evolutionarily conserved gene called NPC1 was shown to be responsible for Niemann-Pick disease type C, a degenerative lysosomal...
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Time for a rare disease Moon Shot?
Why is it so difficult to translate biological discoveries into effective drugs for diseases that are triggered by a single faulty gene? Once upon a time we stamped out smallpox. We went to the Moon...
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