Updates!
February 25, 2022:
Hello Team Cure KCNH1! First of all we wanted to thank you all again SO much for all the support over the past few months!! We have a couple of exciting updates to share, first off, the Encinitas Advocate just published a story about Tristan and our fundraising efforts:
Also, many of you had asked us to let you know when we received our 501(c)(3) status, and after months of waiting we finally heard back from the IRS and Cure KCNH1 Foundation is now an official nonprofit organization! Please explore and share our website to help spread awareness of KCNH1. All donations through the foundation website are 100% tax-deductible.
May 7, 2022:
Big news!!! Thanks to all of you and your generosity, we are making rapid progress toward developing treatments for Tristan and all the KCNH1 kids; we've already completed designs for the ASO (gene-expression therapy), and just this week we went under contract to have them screened. We also signed a contract with Rarebase, a company that is using computer modeling and AI to identify existing medications that could be repurposed to combat the toxic effects of KCNH1 mutations. Thank you all for your support, YOU are making this happen!!!
June 23, 2022:
Making progress!! We're lucky to live in one of the biggest biotech hubs in the world, which is incredibly helpful when you're trying to develop cutting-edge medical treatments. The company that's doing the research for our gene-expression therapy is located here in San Diego and invited us to come tour the lab, so this week we had the chance to see all of your generous donations at work! It was very cool to see the actual brain cells, which will soon be used to test our KCNH1 ASO treatment, growing in Petri dishes. We’ve already designed and manufactured 50 test ASOs (gene-expression/RNA therapies), now this lab is going to screen them for efficacy, and then the next step will be testing them on rats for safety. The iXCells team was wonderful, they‘re clearly very invested in this project and motivated to help Tristan and the other KCNH1 kids!
August 3, 2022:
After five trips to four different labs and two separate blood draws for Tristan over the past week, we finally were able to finish collecting the three samples for the various treatments/research projects we’re working on. One is to test the blood levels of the investigational medication he started in June (got those results yesterday and the levels are extremely low, which means we have plenty of room to increase the dose, yay!). Another is to provide a sample to the Northwestern University lab that is studying KCNH1 and potential treatments. And the last one is for a very fine-grain genetic analysis for the development of the gene-expression therapy (ASO) through the n-Lorem program. We're grateful for the super-nice phlebotomists at Rady Children's Hospital who waded through all the kits and vials and paperwork to get everything straight. Huge thanks to all of the doctors and organizations supporting us with these projects!!!
November 28, 2022:
Giving Tuesday marks the one-year anniversary of our first fundraising campaign. What a difference a year makes!! One year ago, we had a dream but NO clue how we were realistically going to achieve it. Then we launched our GoFundMe, and had an incredible response…it was one of the top GoFundMes in the country following Giving Tuesday, we had 900 donors and $50,000 in three days! Within a few more months, we had raised another $200,000 and started funding pivotal research. In the last six months, we have designed, manufactured, and screened a batch of antisense oligonucleotides (ASOs, or RNA therapies), and identified a couple of promising hits! We have also funded a repurposed drug screen, which identifies existing, approved medications that could be repurposed to help correct the potassium-channel overactivity caused by KCNH1 mutations. Just yesterday we got our list of results from the drug screen, and there are some very promising candidates! Over the summer, we started Tristan on a repurposed medication that had some amazing initial results; for two weeks, he was actually able to learn, it was incredible!!! In those magical weeks right after he went on the medication, he was learning significant new skills every single day, many of them things we had been working on for weeks or months in his therapies. Although unfortunately the positive effects didn’t last, it was extremely encouraging evidence that these types of treatments can really work! The research is progressing and we know that treatments are on the horizon, but we need you to help us get them across the finish line. Please invest in life-changing research today, and share with all your friends and family…together we will Cure KCNH1!!!
January 16, 2023:
We were so thrilled to host the first-ever KCNH1 family and scientific conference over the weekend, and it was a tremendous success! Considering how small our KCNH1 community is (only about 30 families who are active in the community), I was hoping for maybe 50 attendees, between the families and researchers and doctors. With tons of outreach over the past few weeks, we were able to get over 100 people from 14 different countries to attend!! We hired a translation/closed-captioning service in 25+ languages so that everyone could be included, and language wouldn't be a barrier for our international community. We recruited numerous new scientists and families, and I couldn't be more excited about the results that this increased collaboration and engagement will bring. At the end of the conference, we had a researcher roundtable discussion, where numerous scientists were offering to share models and collaborate on projects, which can really propel the research forward. We've gotten very positive feedback from both the families and researchers, saying how informative and impactful and motivating the day was, with numerous people offering to get involved and help out in various ways. Please check out the "Events" tab for more information, and thank you all again, as always, for your involvement and support!
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March 31, 2023:
March was an extremely exciting month at the Cure KCNH1 Foundation! When you're developing treatments, one of the most important things is to have good models of the disease, so that you can then test (long before we get to the stage of trying them in a human!) whether the treatments help reverse the effects of the disease and move the model toward a healthier state. For a brain disorder like KCNH1, there are several levels of models, ranging from a simple cell line (which we already have for KCNH1), to an individual neuron, to a neural network, to a "mini-brain," to a mouse model. Other than the most basic simple cell lines, none of these models currently exist for KCNH1, so one of our most important jobs as a foundation is to help create these invaluable tools for researchers to study...but of course they're very expensive to develop! This month we had a couple of really big breakthroughs; after months of back and forth, Jackson Labs (the leading maker of mouse models) is ready to move forward on the development of not one but two KCNH1 mouse models! They have an NIH grant to cover the cost for ultra-rare diseases, so this is a savings of about $50,000 to our foundation. Also this month, I learned that a research group in Germany that I've been corresponding with for the last six months obtained funding to study KCNH1, and they will be developing KCNH1 neural networks, which is something we had been considering paying $75K for! These kinds of models are absolutely crucial, and the fact that our foundation doesn't have to fund them means that we get to continue to focus on the development of the actual treatments themselves, which is just huge. Speaking of...I just signed a contract to move forward on the next phase of research validating a number of very promising repurposed drug candidates! These are existing, FDA-approved medications that could potentially help suppress the toxic effects of KCNH1 mutations, and since these drugs have already been through clinical trials and have an established safety profile, they could potentially be accessed very quickly to help our KCNH1 kids. With all of these developments, we're feeling incredibly hopeful about what the next few months will bring, and grateful to our scientific partners and all of our supporters investing in our mission!
May 31, 2023:
We're excited to share that we were featured in the spring edition of UC San Diego Magazine! Our story follows the feature article on rare-disease research being conducted at UCSD, which has become "a robust hub for rare disease research." We’ve had the chance to meet with several scientists there, including Alysson Muotri who is featured in the article, and we're extremely excited to begin a new project developing the type of “mini-brains” (brain organoids) described in the article (fun fact that's not mentioned, Muotri has actually partnered with NASA to send some of his organoids to space!). As noted in the article, "the discoveries made while studying rare diseases can be applied to other, more prevalent and visible disorders and diseases," which is definitely the case with KCNH1, since it has a direct link with cancer. This is all very cutting-edge stuff, and we're excited to be a part of it!
Check out the articles here:
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