Amy Paller, MD
Walter J. Hamlin Professor and Chair of Dermatology and Professor of Pediatrics at Northwestern University’s Feinberg School of Medicine
|Amy Paller, MD|
The blistering and thickening of skin seen in EI usually results from a change in a single letter of the DNA code (a mutation) in one copy of the gene that provides the codes for manufacture of a keratin protein in the upper layers of skin. Small interfering RNAs (siRNAs) are small pieces of genetic material that can identify DNA pieces and bind to them, preventing the gene from being translated into protein. siRNAs are able to distinguish the mutated DNA from the normal DNA, and thus are able to prevent only the abnormal keratin protein from being formed. The problem with siRNA has been getting it through the skin barrier to where it needs to go. Dr. Paller and her team have found a way to get the siRNAs through the skin, through nanotechnology. By putting about 30 copies of the siRNA all around a central gold nanoparticle (leading to what her group calls “spherical nucleic acids”), the siRNAs are able to be rubbed into skin in a simple moisturizer, Aquaphor ointment. In the grant proposal, Dr. Paller’s team will deliver an siRNA that specifically recognizes the common mutation of EI, R156H, with the intent to turn down production of the abnormal protein, while maintaining production of the normal protein. Dr. Paller has grown skin cells from several patients with EI and is using these to test if this technique will work for EI using both the cells in culture and a mouse model in which the human cells are grafted to the back of a mouse.
« Back to Previous Page