iPS Disease Modeling and Drug Development in CDKL5

If you have watched a health report on the news lately, you can hardly avoid the mention of stem cells and regenerative medicine. What do Zika virus, Parkinson’s Disease, spinal cord injuries, heart disease, and CDKL5 Disorder have in common? Scientists are using induced pluripotent stem cells (iPS cells) to lead to breakthroughs and develop new treatments for each of these devastating diseases. The IFCR was a very early adopter of this method and has invested in iPS technology since 2011.

How did all of this start for CDKL5 and IFCR?

IFCR helped to organize donations of skin samples from 10 families of boys and girls with several different types of CDKL5 mutations and granted Dr. Allyson Muotri’s lab (including Priscilla Negraes, Ph.D) to study CDKL5, at University of California, San Diego. Dr. Muotri, an expert in iPS cell technology and its application in CDKL5 Disorder, and his colleagues work with these cells has led to studies evaluating the use of read through compounds, a possible therapy to correct certain mutations in CDKL5.

What else has IFCR’s support accomplished?

Fostering coordination and collaboration between scientists to help accelerate the pace of research, IFCR was able to fund a mouse model at the University of Pennsylvania which correlates to the same mutation in both a boy and girl that donated the original cells to Dr Muotri. This is extremely important so data can be compared between samples.

How much has IFCR invested in iPS research?

Since 2011, IFCR has awarded Dr. Muotri with three research grants totaling $430,000 for the development of iPS cell lines and characterization of CDKL5 neurons and modeling of the CDKL5 disorder. IFCRs funding has also allowed Dr Muotri to uncover enough new science that he was able to receive additional funding by the NIH.

What have we learned, so far?

This lab has used single cell gene expression profiling to discover that CDKL5 neurons express a unique set of neurotransmitters. It has also been discovered that there is a unique change that happens after CDKL5 iPS cells are stimulated, that isn’t observed in normal cells. This information allows this technology to be used to identify how different drugs affect the function and growth of the neurons, and it is now using this technology to help discover various medications that can help change the outcome of CDKL5. Also the cells will be specially screened to evaluate a specific molecular profile of CDKL5 cells, which in turn will help to determine other pathways involved with CDKL5 and could lead to more therapeutic targets.

Want to hear directly from Dr Muotri about the CDKL5 research we are funding in his lab?

Dr. Muotri will attend the IFCR Science Symposium to be held in the Chicago, IL, area in June. He has also made arrangements to update families about his work, on Friday afternoon during the 2016 CDKL5 Family Conference at the conclusion of the Science Symposium. IFCR will also be providing detailed information about biobanking at conference, including some print materials to be shared online at

Click here for more information about the research projects we are funding

Click here for more information about the Family Conference