Using stem cells in developmental disorder research

Every two hours, someone is born with Rett Syndrome (RTT), a developmental disorder seen almost always in girls, but occasionally in boys. Those with the disease usually develop normally until they reach 12-18 months, at which point development stops and oftentimes is reversed, causing previously developed skills to deteriorate.

RTT is typically placed under the autism spectrum of disorders (although some have questioned this classification), and is the only autism-spectrum disorder with a known cause: A mutation in the MECP2 gene located on the X chromosome. With the cause known, researchers have a ‘starting point’ to look at for possible ways to combat the disorder, and that’s exactly what they’ve done.

One well-known researcher in the field is Dr. In-Hyun Park from the Yale Stem Cell Center, who presented his work at the Ottawa Hospital Research Institute’s Sprott Centre for Stem Cell Research in late March.

Dr. Park, who has published in both Cell and Nature journals, has focused on generating and isolating induced pluripotent stem (iPS) cells from patients with RTT, and then using those cells to better understand the disease and to find novel ways for screening potential drug therapies. In the process, Park and his lab are developing a greater knowledge of the disorder in an effort to help find ways to better understand and, hopefully, prevent some or all of the symptoms that those with the disorder now live with.

More recent research out of the James Ellis lab in Toronto was published last month in Human Molecular Genetics, further explores the derivation of iPS cells from RTT patient fibroblasts. The team was successful in mapping the RTT genetic mutation and in observing the disease-specific phenotype in differentiated cells. This work, in addition to that of Park and others offers the potential to understand more about what RTT does to the development process, and the role of MECP2 in human genetics.

Many other genetic diseases may be studied using similar techniques to find more information and develop therapy techniques, including Parkinson’s Disease, Huntington’s Disease and Down Syndrome.