🎉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

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

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

Very excited about latest report from @igorulitsky.bsky.social'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/earl...

📢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

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? [email protected] secure.qgiv.com/for/familyan...

📢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

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...

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

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!

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-...

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/...

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!

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.

And last month, "A roadmap to Cure CHD2-related disorders" journals.sagepub.com/doi/full/10.... was published in Therapeutic Advances in Rare Disease #rareepilepsy #autism #patientadvocacy @curechd2.bsky.social

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