Kleefstra Syndrome Drug Development Research Fund

We want to begin our quarterly update with some important news. We have officially changed our name and are now known as K.I.D.S. IQ Project. Kids with Intellectual Disability Syndromes (K.I.D.S.) such as Kleefstra Syndrome itself, have always been our core focus and we are excited to update our brand to highlight this with our global community and corporate partners. The chosen name continues to reflect our commitment to creating a better future for so many children around the world. Going forward, you will see this brand change reflected throughout our organization, including our website, email and social media. We appreciate your patience and understanding during this transition period. You can now contact us at info@kidsIQproject.org or visit us at www.kidsIQproject.org. If you've been a supporter of ours on social media or other channels, we kindly ask that any references to our organization now reflect the new name and online location. As with everything we do, this change is about taking care of our community and we hope this new name will resonate with you. Our mission and focus remain the same and we are as excited as ever to continue building a strong, impactful and engaging organization to pursue our important goals.

With respect to our research efforts, we would like to once again thank you for your continued support in our efforts to advance drug treatments for those impacted by Kleefstra Syndrome and other Intellectual Disability syndromes. Our progress to date would not be possible without you. To learn more, see below for an update on our efforts that past GlobalGiving donations have supported thus far.

Research Project: Screening Potential Drugs To Upregulate EHMT1 (Kleefstra Syndrome Gene)

The aim is to develop a screening tool for chemical compounds, specifically looking for drugs that increase the production of the EHMT1 protein (which is insufficiently produced in Kleefstra Syndrome patients). Why might this overall approach work? Like all humans, Kleefstra Syndrome patients are supposed to have two healthy copies of EHMT1. However, these patients’ gene mutations or deletions result in one copy being deficient. In identifying drugs that can successfully interact with, and stimulate increased production of EHMT1, we may be able to produce enough of the protein to compensate for the deficiency. This approach is known as “upregulation” and has proven successful in other diseases with similar challenges. Once our tool is developed, we will begin by screening FDA-approved drugs, given these drugs have already passed many hurdles and early success may result in tremendous time and cost savings. This project continues to advance and is still expected to generate important screening data within the 2018 calendar year. The goal of the project remains identifying a potential drug candidate for testing on human Kleefstra Syndrome patients.

Links:

• https://www.kidsiqproject.org/