By Dr. Priyom Bose, Ph.D.Reviewed by Emily Henderson, B.Sc. Millions of these people are still waiting and hoping for effective treatment. As the name suggests, rare diseases only affect a small fraction of the global population, for instance, in Europe individuals with rare diseases occur in the ratio of 1 in 2,000 people.
What is a Rare Disease? The Discovery of the whole pathway of cholesterol metabolism paved the foundation for developing many important drugs, such as statins, which are used for the treatment of high cholesterol conditions. This shows how research into rare diseases caused a revolution in the treatment of cardiovascular disease and resulted in saving millions of lives worldwide.
During the study on tuberous sclerosis complex , which is a rare disease that causes the formation of non-cancerous tumors in different parts of the body, scientists identified the faulty or overreactive genes responsible for the TSC condition. In normal conditions, these genes control a cell growth pathway. In this research, scientists were able to link the TSC protein to mTOR signaling, a key regulator of cell growth.
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