Fighting for our kiddos, and others, with CHD2-related neurodevelopmental disorders. Contact us: info@curechd2org
USA
Joined August 2010
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🎉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-Kas…
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
Very excited about latest report from @IgorUlitsky's lab using an ASO to upregulate CHD2 expression!
Stop the doom scrolling! A new 🗞️ from my lab, describing one of our flagship projects of many years we are super excited to share:
"Inducible formation of fusion transcripts upregulates haploinsufficient CHD2 gene expression".
A 🧵biorxiv.org/content/early/20…
📢Exciting Opportunity to Participate in CHD2 Drug Study📢
Acetazolamide vs Other New Anti-Seizure Medication Study in CHD2
CCC wants to better understand the promising effects of acetazolamide on CHD2 patients identified in the small study by Dr. Gia Melikishvili in 2024
Purpose:
- To understand how effective ACZ is on CHD2-related seizure control by comparing it to other ASMs.
- The goal is to see if ACZ should be a clear first-defense drug for CHD2-related seizures (so no more guessing games)
Please complete the 15 minute survey (surveymonkey.com/r/S8KC9PD) and initial results will be presented at CCC’s conference this June in Colorado.
There will be another follow-up survey for participants in the future.
Coalition to Cure CHD2 retweeted
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 @IgorUlitsky, supported by @curechd2.
🔗 Read more: biorxiv.org/content/10.1101/…
Registration now open for CHD2 Family and Scientific Conference! - mailchi.mp/curechd2.org/regi…
Coalition to Cure CHD2 retweeted
Today we are celebrating #CHD2AwarenessDay w/ our friends at @curechd2! 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
Amazing piece about a CHD2 kiddo and her mom's love. people.com/mom-transforms-da…
Coalition to Cure CHD2 retweeted
🧠Spotlight on #CHD2-Related #Epilepsy with Eyelid Myoclonia: study highlights 3 cases linking CHD2 pathogenic variants to drug-resistant EEM.
📃 onlinelibrary.wiley.com/doi/…
@KMSmithMD @giocastellucci @CyChuan @AlinaIvaniuk @AnphyLab @joanajribeiro @SheikhISMD @SBeniczky @curechd2
CHD2 Awareness Day is coming up on Feb 2nd! Visit here to donate or create a fundraiser of your own: coalitiontocurechd2-bloom.ki… 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!
New paper about CHD2-RD in adults, led by @marlenerong in @DrDaniAndrade'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…
secure.qgiv.com/for/helpusbr…
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!
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-Priori…
ALT This open format discussion will provide community members an opportunity to meet our conference organizers, hear about preliminary plans, share what you want to get out of the Family and Scientific Conference on CHD2-Related Disorders, and find out ways you can volunteer. As we build the agenda, we want to make sure the most pressing issues are covered and ensure families' voices are front and center.
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/RareEpilepsyECHO2025
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-newslett…
#CureCHD2
More details on the exciting CHASERR study
Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10 nejm.org/doi/full/10.1056/NE…
CCC Board member Brian Broadbent @chaserrdad contributed to this important paper describing the lncRNA CHASERR and its relationship to CHD2. Congratulations!
A new editorial describes the science behind a study linking a severe neurodevelopmental disorder with deletions in a gene (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) that encodes a long noncoding RNA. Read the full editorial: nej.md/4hkctuu
ALT A diagram of CHASERR haploinsufficiency in a neurodevelopmental disorder.