Coalition to Cure CHD2

Coalition to Cure CHD2 Coalition to Cure CHD2's mission is to improve the lives of those affected by CHD2-related disorders by funding research necessary for uncovering a cure.

See our website www.curechd2.org. Links: linktr.ee/curechd2 Please be advised that Coalition to Cure CHD2 will never ask you to disclose on our website or our page or in any email correspondence with CCC any nonpublic personal and confidential information about you or your family member with CHD2. However, should you choose to disclose this type of information yourself, please know that t

here is a risk, as there is with any electronic or online communication, that such information could be accessed by unauthorized individuals through criminal means such as hacking attempts or data breaches. If you choose to post such personal and confidential information online or in an email to CCC, please know that you do so at your own risk.

One of CCC's major goals is to fund research that advances understanding of CHD2 and paves the way for future treatments...
06/15/2026

One of CCC's major goals is to fund research that advances understanding of CHD2 and paves the way for future treatments.

Your support of CCC has directly brought meaningful research to life. Since 2022, CCC has invested over $200,000 in CHD2 research grants, including the Kasri Lab's "brain-on-a-chip" testing platform, the Mefford Lab's investigation into CHD2 methylation signatures, the Rubinstein Lab's mouse model of CHD2 hapolinsufficiency, and the Willsey Lab's work in a xenopus (frog) model of CHD2 haploinsufficiency.

Learn more about these studies: https://www.curechd2.org/p/CCC-funded-research

📢CHD2 just got a seat at one of the most important tables in autism and neurodevelopmental conditions research. 📢We're t...
06/12/2026

📢CHD2 just got a seat at one of the most important tables in autism and neurodevelopmental conditions research. 📢

We're thrilled to announce that CHD2 has been selected as one of the first genetic conditions prioritized by the new Innovative Medicine and Precision Approaches to Clinical Trials (IMPACT) Network, part of the Aligning Research to Impact Autism | ARIA initiative. CHD2 has been selected as one of six genes for participation in their IMPACT-Ready Study, a study designed to prepare genetic conditions like ours for clinical trials. The IMPACT-Ready Study is an endeavor that connects 12 of the most advanced research sites across major academic medical centers in the US, UK, and Canada in this first phase of the project, with more centers to come.

The other five genes are ARID1B, GRIN2B, RNU4-2, SCN2A, and SLC6A1. We're proud to be in that company, and even prouder that CHD2 made the cut alongside conditions with far larger communities. Read more at https://ariaroadmap.org/research-hubs/impact-network/

This opportunity will provide real infrastructure, like biomarker development, standardized data collection, and a path to clinical trial readiness, built specifically for rare genetic conditions like ours.

None of this happens by accident. CHD2 was a candidate for this opportunity because of the scientists who have spent years building the research foundation, the CHD2 families who show up for registries, surveys, and studies again and again, and the Coalition to Cure CHD2 team members who have galvanized the desperately needed momentum our loved ones deserve. This is their win, and anyone who’s ever been touched by CHD2.

For over 615 families worldwide living with CHD2, this is a moment to celebrate, a moment to seize, and a moment that moves us closer to a cure, faster and with more precision than we've ever had.

We thank the ARIA initiative for inclusion of CHD2 and look forward to collaborating with them and our partners to bring CHD2 family voices into this impactful work. Let’s go!

Meet our next SAB member, Lieven Lagae, MD, PhD.Lieven is Full Professor and Head of Pediatric Neurology Department at t...
06/10/2026

Meet our next SAB member, Lieven Lagae, MD, PhD.

Lieven is Full Professor and Head of Pediatric Neurology Department at the University Hospitals of Leuven, Belgium.

He has a particular clinical and scientific interest in childhood epilepsy and is involved in many research projects including zebrafish epilepsy models, brain stimulation, preventive treatment in TSC, and the use of fenfluramine and analogues in Dravet and refractory epilepsy syndromes.

Lieven is the past President of the European Paediatric Neurology Society. He is also one of the Directors of the European Brain Foundation and Member of the Steering Committee of EpiCare, the European Reference Network for Rare and Complex Epilepsies.

Learn more about the board here: https://www.curechd2.org/scientific-advisory-board

⚽ Join CCC's 2026 Soccer Knockout Bracket Challenge! ⚽CCC is hosting a bracket challenge for the world's biggest soccer ...
06/08/2026

âš˝ Join CCC's 2026 Soccer Knockout Bracket Challenge! âš˝

CCC is hosting a bracket challenge for the world's biggest soccer tournament this summer! For anyone familiar with college basketball bracket tournaments, this will work the same way.

The tournament itself consists of two stages: a 48-team round-robin “pool” stage followed by a 32-team single-elimination knockout stage (traditional bracket format). Our 2026 Soccer Knockout Bracket Challenge will focus on the knockout stage.

Participants will complete a traditional tournament bracket by predicting the winning team for each knockout round match all the way through the final. Points will be awarded for each correct pick, and the participant with the most total points at the end of the tournament will win! CCC shirts will be awarded to the top 2 finishers.

The bracket challenge will be hosted through ESPN, and participants must have an ESPN account to join. The 32-team knockout field will be finalized on June 27, with matches beginning Sunday, June 28 at 3:00 PM ET.

If you are interested in participating, please email Justin Schueler at [email protected] and a link to join the CCC group will be provided. No cost to join and no skill needed — just bring your best team name (the more creative, the better). Don’t miss out!

Today we're spotlighting another SAB member, Kelly Knupp, MD, MSCS, FAES.Kelly is an Associate Professor of Pediatrics a...
06/05/2026

Today we're spotlighting another SAB member, Kelly Knupp, MD, MSCS, FAES.

Kelly is an Associate Professor of Pediatrics and Neurology at the University of Colorado. She received her medical degree from the University of New Mexico - School of Medicine, completed her residency in Pediatrics at Children’s Hospital of New York, followed by a Pediatric Neurology Residency at Columbia University at Children’s Hospital of New York.

After her residency, she trained as a Clinical Fellow in Pediatric Epilepsy at the Columbia Comprehensive Epilepsy Center at New York Presbyterian Hospital.

Dr. Knupp now practices at Children’s Hospital Colorado in Aurora, CO and is the Associate Research Director of Neuroscience Institute and Director of the Dravet Program and Co-Interim Section Chief.

Learn more about the board here: https://www.curechd2.org/scientific-advisory-board

Children's Hospital Colorado is home to the only Chromosome 15 Clinic, a multidisciplinary clinic that treats CHD2 patients of all ages.

You can learn more about the clinic or make an appointment here: https://bit.ly/4u3Srtb

Where exactly are the adults with CHD2?At first glance, it might seem like CHD2 only affects young people, but that's no...
06/03/2026

Where exactly are the adults with CHD2?

At first glance, it might seem like CHD2 only affects young people, but that's not the full picture.

Adults with CHD2 are out there, they are often just undiagnosed. This is partially attributable to genetic testing only becoming more available in the last few years.

Before this, someone with CHD2-related epilepsy would have just been diagnosed with epilepsy of unknown cause, because they never had access to genetic testing.

But it's actually very important for adults who might have CHD2 to get genetic testing, especially those in their 20s, 30s, and 40s. CHD2 can present differently across the lifespan and understanding how it changes over time is critical for researchers and families.

You can read a publication about CHD2 adults here: https://pubmed.ncbi.nlm.nih.gov/39601014/

You can learn about genetic testing for CHD2 here: https://www.curechd2.org/chd2-how-to-test

At the Coalition to Cure CHD2, your confidence in us as an organization means everything.We're committed to being carefu...
06/01/2026

At the Coalition to Cure CHD2, your confidence in us as an organization means everything.

We're committed to being careful stewards of every dollar donated. We keep operating expenses minimal so that your generosity goes where it really matters: finding improved treatments and ultimately a cure for CHD2.

We're proud to be a Platinum Level Participant on Candid, demonstrating our commitment to financial transparency.

Have any questions or concerns? We're happy to share copies of our governing documents or answer whatever you'd like to know. Just reach out to our Executive Director or our general e-mail, [email protected].

You can learn more here: https://www.curechd2.org/p/donor-confidence

Say hello to our next SAB member, Charuta Joshi, MBBS, FAES.Dr. Charuta Joshi is a clinical professor at UTSW- Dallas Ch...
05/29/2026

Say hello to our next SAB member, Charuta Joshi, MBBS, FAES.

Dr. Charuta Joshi is a clinical professor at UTSW- Dallas Children's Hospital. She is board certified in clinical neurophysiology (Canada), neurology with special certification in child neurology (USA and Canada), and Epilepsy (USA).

She received her pediatric neurology training at the New York Presbyterian Hospital in New York City and did an epilepsy fellowship at Wayne State University, Children’s Hospital of Michigan.

Her main interests are medically intractable epilepsy, health care costs, telemedicine, epileptic encephalopathy, epilepsy surgery, and the ketogenic diet.

She has also serves on various AES committees including the Pediatric Content committee, Treatments committee, Chair of the Children's Hour and is a member of PERC since its inception.

Learn more about the board here: https://www.curechd2.org/scientific-advisory-board

CCC's Executive Director Laura Marks attended the American Society of Gene and Cell Therapy annual meeting in Boston ear...
05/28/2026

CCC's Executive Director Laura Marks attended the American Society of Gene and Cell Therapy annual meeting in Boston earlier this May, where she met with scientists, clinicians, and fellow leaders from patient advocacy groups, and attended presentations about the latest developments in cell and gene therapy. The field is advancing by leaps and bounds.

Next week, CCC will host our 4th annual CHD2 Meeting of the Minds scientific symposium, where discussions will include ways to incorporate lessons learned from other rare genetic diseases into innovative approaches to developing targeted therapies for CHD2.

Pictured in the collage:
đź“· Laura with Pangkong Fox (CACNA1A Foundation), Sumaya Ali (DNM1 Epilepsy: Rare Dynamos)
đź“· Effie Parks (Once Upon a Gene podcast), Pangkong Fox (CACNA1A Foundation), Laura, Sierra Phillips (Warsaw-Breakage Syndrome Foundation)

CCC is proud to be a new member of National Organization for Rare Disorders (NORD)!NORD is a nonprofit advocating for al...
05/27/2026

CCC is proud to be a new member of National Organization for Rare Disorders (NORD)!

NORD is a nonprofit advocating for all individuals and families affected by rare disease. It was founded after the passage of the Orphan Drug Act of 1983 (ODA) to formalize the coalition of patient advocacy groups that were instrumental in passing that landmark law.

NORD has since become a trusted partner in helping those who battle and care for rare disease feel seen, heard, supported, and connected.

You can learn more about NORD here: https://rarediseases.org

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