Kabuki Syndrome Foundation
@kabukisyndrome.bsky.social
We drive research to treatments for this rare disease through collaboration, education, and fundraising. www.kabukisyndromefoundation.org
Join the largest event for Kabuki syndrome research updates on Sept 30!
We’ll share a major announcement on our ICD-10 code, updates on potential treatments, results from our community survey, and hear from keynote Charlene Son Rigby, @globalgenes.bsky.social
📌 Register today: bit.ly/KSFZoom25
We’ll share a major announcement on our ICD-10 code, updates on potential treatments, results from our community survey, and hear from keynote Charlene Son Rigby, @globalgenes.bsky.social
📌 Register today: bit.ly/KSFZoom25
September 3, 2025 at 5:17 PM
Join the largest event for Kabuki syndrome research updates on Sept 30!
We’ll share a major announcement on our ICD-10 code, updates on potential treatments, results from our community survey, and hear from keynote Charlene Son Rigby, @globalgenes.bsky.social
📌 Register today: bit.ly/KSFZoom25
We’ll share a major announcement on our ICD-10 code, updates on potential treatments, results from our community survey, and hear from keynote Charlene Son Rigby, @globalgenes.bsky.social
📌 Register today: bit.ly/KSFZoom25
The Kabuki Syndrome Foundation is investing $300,000 to test vafidemstat, an LSD1 inhibitor, in a Kabuki syndrome mouse model—a crucial step toward unlocking potential treatments. This project exemplifies the power of community-driven research. Read more: bit.ly/KSFVafiMouseApr25
Kabuki Syndrome Foundation Testing Vafidemstat in Kabuki Syndrome Mouse Model
The Kabuki Syndrome Foundation is funding a $300,000 mouse model study on vafidemstat, a potential treatment for Kabuki syndrome.
bit.ly
April 3, 2025 at 6:43 PM
The Kabuki Syndrome Foundation is investing $300,000 to test vafidemstat, an LSD1 inhibitor, in a Kabuki syndrome mouse model—a crucial step toward unlocking potential treatments. This project exemplifies the power of community-driven research. Read more: bit.ly/KSFVafiMouseApr25
KSF poster abstract wins at 1st EpiGenRare Conference hosted by Manchester Rare Conditions Centre! Read more on our blog: bit.ly/KSFPosterWin
KSF Wins Poster Award at the EpiGenRare Conference
KSF’s community survey research received one of the ‘best submitted poster abstract’ awards at Rare Disease Research UK EpiGenRare Conference.
bit.ly
April 1, 2025 at 5:33 PM
KSF poster abstract wins at 1st EpiGenRare Conference hosted by Manchester Rare Conditions Centre! Read more on our blog: bit.ly/KSFPosterWin
𝗢𝗻 𝘁𝗵𝗶𝘀 𝗥𝗮𝗿𝗲 𝗗𝗶𝘀𝗲𝗮𝘀𝗲 𝗗𝗮𝘆, we are empowering our global community to share their #𝗿𝗮𝗿𝗲𝗔𝗡𝗗 stories, showcasing the resilience of those living with Kabuki syndrome. People with Kabuki syndrome are rare AND SO MUCH MORE. Learn more, use our toolkit & join our collaborative network: bit.ly/KSFToolkit
February 28, 2025 at 4:33 PM
𝗢𝗻 𝘁𝗵𝗶𝘀 𝗥𝗮𝗿𝗲 𝗗𝗶𝘀𝗲𝗮𝘀𝗲 𝗗𝗮𝘆, we are empowering our global community to share their #𝗿𝗮𝗿𝗲𝗔𝗡𝗗 stories, showcasing the resilience of those living with Kabuki syndrome. People with Kabuki syndrome are rare AND SO MUCH MORE. Learn more, use our toolkit & join our collaborative network: bit.ly/KSFToolkit
Our partners at @bostonchildrens.bsky.social invite you to a special virtual Grand Rounds with expert geneticist Heidi Rehm next week. See you there! Registration is free: lnkd.in/gsfbiVm6
February 19, 2025 at 4:22 PM
Our partners at @bostonchildrens.bsky.social invite you to a special virtual Grand Rounds with expert geneticist Heidi Rehm next week. See you there! Registration is free: lnkd.in/gsfbiVm6
🎉 Over 250 caregivers and adults with Kabuki syndrome participated in our recent survey to assess symptoms and treatment preferences! This large dataset will guide research priorities as we continue to drive research to treatments. ➡️ Read more about our plans for the data: bit.ly/KSFSurveyCos...
KSF Awarded Pro Bono Support to Survey Community
The Kabuki Syndrome Foundation conducted a community survey to assesses symptom impact and treatment preferences in Kabuki syndrome.
bit.ly
February 12, 2025 at 5:51 PM
🎉 Over 250 caregivers and adults with Kabuki syndrome participated in our recent survey to assess symptoms and treatment preferences! This large dataset will guide research priorities as we continue to drive research to treatments. ➡️ Read more about our plans for the data: bit.ly/KSFSurveyCos...
✨ Our 2024 Impact Report highlights the identification of 9 potential Kabuki syndrome treatments, $700,000 in new KSF grants, and more: bit.ly/KSF2024Impact ✨We look forward to continuing this collaborative momentum towards treatments in 2025!
January 24, 2025 at 10:22 PM
✨ Our 2024 Impact Report highlights the identification of 9 potential Kabuki syndrome treatments, $700,000 in new KSF grants, and more: bit.ly/KSF2024Impact ✨We look forward to continuing this collaborative momentum towards treatments in 2025!
Our “dancing K" represents the joy and hope of our community. And our hope is in action! We are committed to funding treatments that unlock healthier futures for people with Kabuki syndrome and have supported 7 potential treatments so far! Join us: bit.ly/KSFNewsRegis...
January 17, 2025 at 6:32 PM
Our “dancing K" represents the joy and hope of our community. And our hope is in action! We are committed to funding treatments that unlock healthier futures for people with Kabuki syndrome and have supported 7 potential treatments so far! Join us: bit.ly/KSFNewsRegis...
67 new individuals joined our global census and contact registry last quarter! Kabuki Count keeps families informed of new research opportunities and clinical trials. 📈 Explore more insights like age and sex here: bit.ly/KabukiCountInsights
January 13, 2025 at 5:11 PM
67 new individuals joined our global census and contact registry last quarter! Kabuki Count keeps families informed of new research opportunities and clinical trials. 📈 Explore more insights like age and sex here: bit.ly/KabukiCountInsights
🎉 Now on YouTube! Watch this year's conference recordings to see the NINE TREATMENTS in development, live panel discussions, and discover how our community is preparing for clinical trials. Start with the playlist here! ➡️ bit.ly/2024ConferenceYouTube
December 10, 2024 at 6:34 PM
🎉 Now on YouTube! Watch this year's conference recordings to see the NINE TREATMENTS in development, live panel discussions, and discover how our community is preparing for clinical trials. Start with the playlist here! ➡️ bit.ly/2024ConferenceYouTube
Hello! We’re kicking this off by inviting you to our BIGGEST event of the year! Our annual research conference is tomorrow and highlights the latest progress and opportunities in Kabuki syndrome research. ➡️ This rare disease has no treatments! We’re changing that. Join us: bit.ly/2024KSFConf_...
December 4, 2024 at 10:28 PM
Hello! We’re kicking this off by inviting you to our BIGGEST event of the year! Our annual research conference is tomorrow and highlights the latest progress and opportunities in Kabuki syndrome research. ➡️ This rare disease has no treatments! We’re changing that. Join us: bit.ly/2024KSFConf_...