Marnie Blewitt studies how genes are turned on and off, a process called epigenetic modification that is critical for development. The DNA of a fertilized egg contains all the information to form an adult. Proteins are called epigenetic modifiers to turn different genes on and off throughout development. The disease can occur if this process fails.
Despite their importance, most human epigenetic modifiers likely remain unknown. Her lab is identifying potential new epigenetic modifiers. This is revealing the role of epigenetics in development and disease. The ultimate aim is to develop treatments for diseases that manipulate epigenetic modifiers, where the focus is on activating or inhibiting the epigenetic regulator SMCHD1.
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