In the 1990s, the Ara Parseghian Foundation donated money to the National Institutes of Health to sequence the gene associated with a rare disease affecting the three grandchildren of Parseghian, the famed Notre Dame football coach. At the time, only a handful of labs in the world were working on Niemann Pick C, a neurodegenerative disorder known to strike one in 150,000 people.
Researchers knew the NPC1 gene was behind most cases of NPC, and the disease was characterized by an accumulation of cholesterol in the lysosomes. But they were unsure of the location of the gene and how the protein functioned. Through integrated human-mouse positional cloning, researchers were able to narrow in on the NPC1 gene.
After plugging the DNA sequence of the NPC1 gene into the National Center for Biotechnology Information (NCBI) database, Jill Morris, a postdoc at NIH, remembers the excitement found within the 30-page print-out - ...
