By Hira Verma | Chair, President & Secretary
K.I.D.S. IQ Project would like to once again thank you for your support in our efforts to advance drug research and treatments for those impacted by Kleefstra Syndrome and other Intellectual Disability disorders. Our progress to date would not be possible without you. To learn more, a link to our 2017 Annual Report can be found below. Additionally, we wanted to update you on our efforts that past GlobalGiving donations have supported thus far - see below.
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 is advancing and is 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.
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