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A Next Generation Solution to Disorders of Sex Development

I carefully place a paper-thin membrane onto the petri dish filled with tris-EDTA (TE) buffer with metal forceps. Drawing up the solution of impure genomic DNA, I gently pipette it out until a clear spot dots the membrane, floating in a delicate balancing act. Satisfied with my work, I take a seat by the computer as the machine to my left whirs to life and flashes fluorescent green. At the Vilain lab in Children’s National Medical Center, I spend a good deal of my time wheeling the mouse around and watching as speckles of fluorescent green, red, and blue dot the computer screen like fireworks. These vibrant colors map out major patterns in sequence across the entire human genome. This very technology has incredible potential to revolutionize the study and treatment of rare diseases.