Research Information

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The Benefits of Niemann-Pick Type C Research

Niemann-Pick Type C (NPC) is a rare genetic disease – so rare that fewer than 1,500 people throughout the world have been diagnosed. But there is growing interest in Niemann-Pick from researchers in many fields. Why? Because of its connection to metabolism – especially cholesterol metabolism.

Niemann-Pick research is giving hope to those fighting

Alzheimer’s.

Alzheimer’s and NPC are progressive neurological diseases with similar effects on the brain. Recent studies comparing the two diseases discovered that Alzheimer’s is closely tied to a failure in cholesterol metabolism – the very process that is central to NPC. Researchers are looking to Niemann-Pick to learn about the basic causes and early progress of Alzheimer’s.

Niemann-Pick research may be the key to finding ways to fight heart disease and stroke.

We all know that high cholesterol is the main cause of heart disease. But until the gene that causes NPC was discovered, researchers had few opportunities to identify the complex processes that regulate cholesterol. How does the body know if it has too much cholesterol or too little? NPC research is beginning to provide answers.

Niemann-Pick disease should be at the forefront of research into lysosomal storage disorders.

NPC is one of 46 lysosomal storage diseases estimated to affect more than 55,000 people. The lysosome is a structure inside the cell that digests substances into more basic compounds. In addition to Niemann-Pick, some of the better known lysosomal storage diseases are: Fabray, Gaucher's, Hurlers, Pompe and Tay-Sachs. All of these diseases are rare so, in some cases, no research – or very little – is being done on an individual disease. However, all of the lysosomal storage diseases have certain features in common. That means that research in one area can lead to breakthroughs for all.

The impact of Niemann-Pick research, funded by your donations and fund-raising events, goes well beyond helping those suffering from Niemann-Pick. It promises hope to other rare disease sufferers and to those of us currently in good health who may one day experience the ravages of heart disease, stroke or Alzheimer’s.

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