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Coalition to Cure CHD2 @curechd2.bsky.social · 26/06/2025

🎉Coalition to Cure CHD2 has granted €100,000 to @naelnadifkasri-lab.bsky.social 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: www.curechd2.org/p/2025grant-KasriLab

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Coalition to Cure CHD2 @curechd2.bsky.social · 18/06/2025

Huge thanks to all the 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 our understand 🔜treatments of CHD2-related disorders #CureCHD2

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Reposted by Coalition to Cure CHD2

Heather Mefford, MD, PhD @hcmefford.bsky.social · 13/06/2025

Excited to be at the CHD2 @curechd2.bsky.social Scientific and Family conference in Colorado w/ @esbonkowski.bsky.social @edithalmanzafuerte.bsky.social ! 🧬🧠⛰️

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Coalition to Cure CHD2 @curechd2.bsky.social · 30/05/2025

Very excited about latest report from @igorulitsky.bsky.social's lab using an ASO to upregulate CHD2 expression!

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Reposted by Coalition to Cure CHD2

Igor Ulitsky @igorulitsky.bsky.social · 29/05/2025

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/earl...

biorxiv.org

Inducible formation of fusion transcripts upregulates haploinsufficient CHD2 gene expression

Modes of action of long noncoding RNAs (lncRNAs) are poorly understood. CHASERR is a broadly expressed lncRNA located immediately upstream of the promoter of the CHD2 gene. We show that antisense olig...

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Coalition to Cure CHD2 @curechd2.bsky.social · 09/05/2025

📢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. surveymonkey.com/r/S8KC9PD

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Coalition to Cure CHD2 @curechd2.bsky.social · 06/05/2025

CHD2 researchers & clinicians, if you're interested in networking and learning more about CHD2 haploinsufficiency, attend our Family & Scientific Conference June 13-15 in Denver. Discounts for early career researchers. Questions? info@curechd2.org secure.qgiv.com/for/familyan...

secure.qgiv.com

CHD2 Professional Registriation

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Coalition to Cure CHD2 @curechd2.bsky.social · 26/03/2025

📢We're excited about preprint on CCC-funded research by Dr. Moran Rubinstein's lab in collaboration with @igorulitsky.bsky.social on new CHD2 mouse models, helping us understand CHD2 biology & another way to test targeted treatments & explore biomarkers🐁🧬#CureCHD2

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Coalition to Cure CHD2 @curechd2.bsky.social · 14/03/2025

Our CHD2 Winter News 2025 is out today, just under the wire before spring. If you missed it in your email, you can see it here: tinyurl.com/CHD2-Winter-... Sign up for our newsletter at www.curechd2.org/signup-newsl...

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Coalition to Cure CHD2 @curechd2.bsky.social · 28/01/2025

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-awarene... 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 join us!

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Coalition to Cure CHD2 @curechd2.bsky.social · 30/12/2024

CHD2 in the news! CHD2 mom Melissa Bowers posted this fabulous makeover of daughter Leah's bedroom door on social media and it was picked up by Newsweek! Kudos to Melissa for this great idea and tribute to her daughter. #CureCHD2 www.newsweek.com/mom-creates-...

newsweek.com

Mom's heartbreaking gesture after realizing daughter will never live alone

"She is the light in the dark and frozen in time," the doting mom told Newsweek.

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Coalition to Cure CHD2 @curechd2.bsky.social · 01/12/2024

New paper about CHD2-RD in adults, led by Marlene Rong, Dr. Danielle Andrade's lab at UToronto, describing 14 adult CHD2 pts with seizures, behavioral challenges, gait issues, and other comorbidities impacting their sleep, eating and pain responsiveness. Congrats! www.neurology.org/doi/10.1212/...

neurology.org

Adult Phenotype of CHD2-Associated Disorders | Neurology Genetics

Background and ObjectivesPathogenic CHD2 variants are associated with neurodevelopmental disorders and developmental and epileptic encephalopathy. While pediatric CHD2 phenotypes have been readily exp...

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Coalition to Cure CHD2 @curechd2.bsky.social · 22/11/2024

CCC is heading to the American Epilepsy Society Annual Meeting in Los Angeles from December 6-9, 2024. Please stop by our booth to say hi!

3 women standing behind table with flyers and banners for Coalition to Cure CHD2

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Coalition to Cure CHD2 @curechd2.bsky.social · 20/11/2024

secure.qgiv.com/for/helpusbr... As we approach the end of another year, we want to extend our heartfelt gratitude for the community's 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.

Help Us Bring Hope - images of 13 children of various ages with CHD2-related disorders

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Coalition to Cure CHD2 @curechd2.bsky.social · 14/11/2024

Read our Fall Newsletter tinyurl.com/CCCFallNews2... and learn about what CCC has been up to. In it, we announce our upcoming Family & Scientific Conference from June 13-15, 2025 in Denver, CO. We hope you'll join us! More info at curechd2.org/p/CHD2-conf-2025 #CureCHD2

tinyurl.com

Coalition to Cure CHD2 - Fall 2024 News

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