K.I.D.S. IQ Project is currently funding three projects related to Kleefstra Syndrome. Each project leverages a different type of drug screen approach, with the ultimate goal of each being to identify potential drug candidate that can be refined further (for eventual testing in human Kleefstra Syndrome patients). In addition, we have designed our projects such that the learnings and findings from each drug screen can be applied to numerous other Intellectual Disability disorders. Please see below for a more detailed description of the three projects in the process of being funded.
This project formally began in December 2016 and is being led by Dr. Hans van Bokhoven and Dr. Nael Nadif Kasri, both of Radboud University (The Netherlands), in collaboration with Dr. Hans Bjornsson of Johns Hopkins University in the United States. The leaders of this research team have completed a screen of a short list of chemical compounds (drugs). They leveraged drugs that have historically been able to target syndromes and diseases which are similar to Kleefstra Syndrome, and other drugs well-suited to address the biology of Kleefstra Syndrome itself.
Our second project is underway and is being led by Dr. Carl Ernst of McGill University and Douglas Hospital Research Institute in Canada. Dr. Ernst is in the process of creating neuronal cells from a Kleefstra Syndrome patient’s skin sample to be used as a screening tool for chemical compounds, also leveraging iPSC technology. The screen will look for drugs that specifically increase the production of the EHMT1 protein, which is insufficiently produced in Kleefstra Syndrome patients.
This project is being led initially by Dr. Carl Ernst of McGill University in Canada, followed by phase-two leadership from Dr. Yi Zhang of Boston Children’s Hospital (BCH) in the United States. The BCH team will convert iPS cells (created by Dr. Ernst) to neuronal cells for detailed study. The neuronal cells (and their associated phenotype) will then be used in a broad-based drug screen covering hundreds of thousands of existing drugs and other non-commercialized compounds. This project is in phase one and is expected to last up to three years, with a goal of identifying a potential drug candidate for testing on human Kleefstra Syndrome patients.
Message to Researchers
If you are a researcher currently engaged in or potentially interested in translational scientific research in our areas of interest, please contact us. We note that some of the research tools we are currently developing (such as an iPSC bank) are being made available to the research community more broadly and, as such, this can significantly reduce the time and cost associated with future research projects you may be contemplating. Contact us
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