CCC Board member Brian Broadbent CHASERR lncRNA Dad contributed to this important paper describing the lncRNA CHASERR and its relationship to CHD2. Congratulations!

More details on the exciting CHASERR study

Our Fall Newsletter is out tinyurl.com/CCCFallNews2024 announcing our upcoming Family & Scientific Conference from June 13-15, 2025 in Denver, CO. We hope you'll join us! If you didn't receive the newsletter by email, please make sure to subscribe curechd2.org/signup-newslet… #CureCHD2

ATTN neurologists, RNs, genetic counselors, PCPs, ED docs and other HCPs:  Learn from top faculty how to diagnose & manage complex rare epilepsy pts, esp those with DEEs. FREE program offered alternating Weds for 6- 60min sessions, beg Jan 22.  Register: bit.ly/RareEpilepsyEC…

Join us on Nov 20 @ 2pm ET for a Family & Scientific Conference Planning Discussion: Tell us what's important to you! When: Wednesday, November 20, 2024 | 2:00 PM EST / 7:00 PM UTC Register here: tinyurl.com/CHD2-Conf-Prio…

secure.qgiv.com/for/helpusbrin… As we approach the end of another year, we want to extend our heartfelt gratitude for your continued support of the Coalition to Cure CHD2 (CCC). Please consider making a year-end donation today. No amount is too small, and every dollar counts. Thank you!

New paper about CHD2-RD in adults, led by @marlenerong in AGE Program - Adult Genetic Epilespy's lab, describing 14 adult CHD2 pts with seizures, behavioral challenges, gait issues, and other comorbidities impacting their sleep, eating and pain responsiveness. Congrats! neurology.org/doi/10.1212/NX…

🧠Spotlight on #CHD2-Related #Epilepsy with Eyelid Myoclonia: study highlights 3 cases linking CHD2 pathogenic variants to drug-resistant EEM. 📃 onlinelibrary.wiley.com/doi/full/10.10… Kelsey Smith, MD Giovanni Castellucci, MD, MS Yong Chuan Chee Alina Ivaniuk 🇺🇦 The AnPhy Lab Joana Ribeiro irfan sheikh 伊凡 Sandor Beniczky Coalition to Cure CHD2

CHD2 Awareness Day is coming up on Feb 2nd! Visit here to donate or create a fundraiser of your own: coalitiontocurechd2-bloom.kindful.com/chd2-awareness… Our fundraisers are off to a great start, but we need your help to reach our goal of $150,000 by February 28 (Rare Disease Day). Please help improve lives!

Amazing piece about a CHD2 kiddo and her mom's love. people.com/mom-transforms…

Today we are celebrating #CHD2AwarenessDay w/ our friends at Coalition to Cure CHD2! We have 41 participants with #CHD2 -related syndrome registered in #SimonsSearchlight. 🌐 👨‍👩‍👧‍👦 Find resources, data reports, gene guides, advocacy support and more on our CHD2 webpage: bit.ly/CHD2Report

Registration now open for CHD2 Family and Scientific Conference! - mailchi.mp/curechd2.org/r…

Excited to share our upgraded #CHD2 mouse model! 🐭🧠 It better mimics the disorder, revealing key symptoms like motor deficits, autistic features & altered brain function⚡️ An amazing collaboration with Igor Ulitsky 💔, supported by Coalition to Cure CHD2. 🔗 Read more: biorxiv.org/content/10.110…

Very excited about latest report from Igor Ulitsky 💔's lab using an ASO to upregulate CHD2 expression!

Huge thanks to incredible researchers & clinicians who participated in our CHD2 Research Strategies & Innovation Workshop last weekend! We're inspired by your commitment/collaboration & excited for future breakthroughs to advance understanding treatments of CHD2-related disorders

🎉Coalition to Cure CHD2 has granted €100,000 to Dr. Nael Nadif Kasri to advance personalized medicine for CHD2-related disorders. He & Dr. Elly Lewerissa will explore a novel approach using antisense oligonucleotides to ⬆️CHD2 protein expression. More: curechd2.org/p/2025grant-Ka…