In addition to the information on the genetic underpinnings of Rett Syndrome (and an unexpected discovery with regards to non-suppression of transposable elements on the DNA of the effected individuals) the thing that caught my attention was the fact that stem cells were created from skin cells, then turned into nerve cells to be studied. As the author notes, researchers cannot just grab a bunch of nerve cells to biopsy (as they might grab liver cells or muscle cells) since nerve cells tend to be in use for specific functions all the time. So, the researchers were able to biopsy the Rett Syndrome patients’ nerve cells by getting a sample of skin cells, then growing stem cells from them, then turning those into nerve cells. I know that this has been discussed as one of the many benefits of being able to turn “standard” cells into stem cells, but I don’t recall reading of it being done as a part of specific research.
A true wonder.