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We are thrilled to welcome you all to our 3rd Brianna’s Brigade Walk + Pumpkin Carving! This is HER DAY, one she looks forward to year round as we celebrate what a special young lady she is. Since receiving Brianna's diagnosis, we have made finding a cure for KS part of our life's mission. Like many rare disorders, research into treatment is underfunded and overlooked by most clinical research organizations. Along with several other KS parents, we launched IDefine to bring together leading scientists + research institutions to accelerate new treatments. We feel very positive about Brianna's future, and we are committed to doing everything we can to maximize her potential in life.
Because of your support, we have helped IDefine accomplish some amazing feats! In 2020, we were able to launch the first ever Kleefstra Clinic in the United States at Boston Children's Hospital. We have funded research studies to develop cellular Kleefstra models. We've helped sponsor conferences, both for families and scientists to learn more about the condition and discover our community. The impact has been felt across the international Kleefstra community because of you.
Where we are going...
With your continued support, we are furthering the research of Kleefstra Syndrome. Everyone with KS has one damaged copy of the gene EHMT1, but importantly, they still have one intact copy as well. There is a new technology called ASO technology that may provide a path to a treatment by adjusting the activity of that intact EHMT1 gene.
IDefine will be working with researchers to screen potential ASOs to see if we can find one that will turn up the activity of the intact copy EHMT1. This is an exciting prospect, because it provides a "precision medicine" approach that addresses the underlying issue, rather than just treating symptoms.
If we can find an ASO that turns up EHMT1, there is potential to develop this into a drug treatment that would compensate for the missing damaged copy of EHMT1 in KS patients.
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Thank You!
Thank you for your support in helping us define a new future for our loved ones with Kleefstra Syndrome, We are determined to help them unlock their potential, and your support gets us closer to our goals. Thank you! A confirmation email should be coming to your email shortly.
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