Apo E Gene and Diet

All afternoon, I have been thinking about the Apo E cholesterol-related gene and what combination of Apo E genes each person in our family inherited.  The Apo E gene provides instructions for making a protein called apolipoprotein E and it is located on Chromosome 19.   This protein combines with fats (lipids) in the body to […]

Sphingosine and Calcium Defect Causes Niemann Pick Type C, Cholesterol Downstream Effect Of The Disease

In a recent issue of Nature Medicine, Oxford University reports that Niemann Pick Type C disease is a sphingosine storage disease that causes deregulation of lysosomal calcium.  According to Oxford researchers, there is a block in the late endosome to lysosome transport in NPC disease, resulting in the downstream storage of cholesterol and glycosphingolipids (a […]

Good Morning America Features Addi and Cassi’s Fight Against Fatal Brain Disease

On May 1st, 2008, Addi and Cassi’s fight against Niemann Pick Type C was featured on ABC News Good Morning America. Please spend a few minutes to read the entire story and watch the 4 minute segment.  We are very grateful to Good Morning America for taking the time to create this thoughtful and caring […]

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