Coalition to Cure CHD2
@curechd2
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Fighting for our kiddos, and others, with CHD2-related neurodevelopmental disorders. Contact us: info@curechd2org
USA
Joined August 2010
RT @s_searchlight: Today we are celebrating #CHD2AwarenessDay w/ our friends at @curechd2! We have 41 participants with #CHD2 -related syndโฆ
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RT @EpiDisorders: ๐ง Spotlight on #CHD2-Related #Epilepsy with Eyelid Myoclonia: study highlights 3 cases linking CHD2 pathogenic variants toโฆ
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CHD2 Awareness Day is coming up on Feb 2nd! Visit here to donate or create a fundraiser of your own: 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!
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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!
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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!
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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:
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ATTN neurologists, RNs, genetic counselors, PCPs, ED docs and other HCPs:ย ย 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.ย Register:
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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 ๐งฌ (๐๐๐๐๐๐๐) as the cause of a newly defined human neurodevelopmental disorder ๐ง . ๐งต1/10
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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 (๐๐๐๐๐๐๐) that encodes a long noncoding RNA. Read the full editorial:
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RT @VGaneshMDPhD: Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene ๐งฌ (๐๐๐๐๐๐๐) as the causeโฆ
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Excited to see CCC's peer-reviewed paper, A Roadmap to Cure CHD2-Related Disorders, has been published in Therapeutic Advances in Rare Disease. Kudos team! #curechd2 @Stephkprince @chaserrdad @hcmefford @ebonkowski @Csaninocencio @CarvillLab @chrismcgraw82
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RT @DiseasePrimers: Our NEW Primer on Developmental and epileptic encephalopathies is live today! By @ingridscheffer , @sameermzuberi , @hcโฆ
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A terrific fellowship opportunity -- not just for TSC!
The Al Marshall โCommitment to the Futureโ Fellows Scholarship is now open! One eligible Fellow will receive full travel and registration coverage for the 2024 @AmEpilepsySoc Annual Meeting. Learn more: Apply here:
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Congratulations to @cwlaflamme on your first 1st-authored paper! We're thrilled to have you working on CHD2!!
It's finally out! Congrats @stjudegraduate student @cwlaflamme on her 1st first-author pub using #methylation for #epilepsy diagnosis @NatureComms! Super collab effort - thx to ALL (50+) authors! ๐งฌ๐ง ๐งฌ๐ง
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CCC is delighted to be partnering with @CureEpilepsy to research rare epilepsy. Thank you, @hcmefford for being a CHD2 methylation pioneer!
CURE Epilepsy is excited to announce our newest Catalyst and Rare Epilepsy Partnership grantees who are engaging in groundbreaking research for the epilepsy community. Learn about these researchers and their work!
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Congrats to @hcmefford for Rare Epilepsy Partnership Award to study the methylation signature of CHD2-related disorders to help clarify VUS Dx + predict CHD2 symptoms & traits. @CureEpilepsy & @curechd2 are joint partners, co-funding this grant to accelerate CHD2 research
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