Courtesy of Dr Gerry Thompson, this image shows brain MRI images from a 3-month-old sheep which has been genome edited to express the human PPT1 mutation responsible for Batten disease – a rare nervous system disorder that causes dementia and early death in children. CRISPR/Cas9 gene editing technology was used to produce an ovine disease model at the University of Edinburgh’s Roslin Institute. Symptoms of the genetic condition in this large animal model should more closely mimic the experience of children with the illness, compared with conventional studies on mice or fruit flies. Sheep with the PPT1 mutation can be monitored and tested in similar ways to human patients, including with MRI scans.
In the image above, from top to bottom at left, there are orthogonal sections from a structural T1-weighted MPRAGE MRI of the brain (first row), with overlaid grey matter probabilistic segmentation (second row), overlaid cortical thickness measurement (third row), and overlaid white matter probabilistic segmentation (fourth row). At right, there is cortical region segmentation (top) with 3D rendering (bottom).