Families, researchers, clinicians, and advocates from around the world gathered in Denver, Colorado, from June 13–15 for the second Family and Scientific Conference hosted by the Coalition to Cure CHD2 (CCC) — an event rooted in shared experience and a united commitment to advancing research for CHD2-related disorders. 

Founded in 2020 by a small group of families whose loved ones were diagnosed with CHD2-related conditions, the CCC has grown into a global network dedicated to accelerating the diagnosis, understanding, and treatment of CHD2. This rare genetic condition, first identified in 2013, is caused by changes in the CHD2 gene on chromosome 15 — a gene essential to healthy brain development. Mutations in CHD2 are associated with developmental and epileptic encephalopathies, often presenting with drug-resistant epilepsy and intellectual disability. 

Though still a rare diagnosis, improved access to genetic testing means more families are receiving answers — and finding community. Today, CCC has registered over 460 families across 51 countries, a testament to the strength of global collaboration in rare disease advocacy. 

A Story Close to Home 

Colette and Sean with their family

Among the attendees in Denver were Colette Delahunt and her husband Liam, who shared their family’s journey to a CHD2 diagnosis for their son, Sean. Colette, a valued member of FutureNeuro’s Public and Patient Involvement (PPI) Panel, reflected on the power of having a name for Sean’s condition after years of uncertainty. 

“It was important to me to express the difficulty in not having a diagnosis for 14 years, the positive impact of obtaining one in 2017 and the hugely important role FutureNeuro played in that diagnostic odyssey,” said Colette. 

Insights from Ireland  

The conference also showcased the latest advances in CHD2 research — from cohort development and disease modelling to clinical trial readiness and emerging therapeutic strategies. Several academic and industry groups are now actively working on, or exploring, the development of precision treatments for CHD2-related conditions. 

Dr Gary Brennan

Dr Gary Brennan, FutureNeuro Funded Investigator and Assistant Professor at the UCD School of Biomolecular and Biomedical Science, attended the conference and highlighted the importance of the event: 

“The Coalition to Cure CHD2 Family and Scientific Conference provided a wonderful reminder of the importance and need to continue research into this understudied condition. The charity has done an incredible job at uniting the community and creating a clear set of priorities and roadmap towards developing a cure, bringing together scientists. Meeting the children and their families was a particular highlight of the event.” 

Dr Brennan’s CHD2-focused projects use patient-derived tissue to generate mini-brains in the lab — organoid models that mimic early brain development. These models help researchers explore how CHD2 regulates brain development and how these processes get disrupted in children with CHD2 variants. His team is particularly interested in understanding how CHD2 influences the non-protein coding portion of the genome, and they are developing therapeutic strategies aimed at correcting these differences to restore normal brain development. 

Colette added, “We were totally inspired and encouraged by the scientific presentations and the momentum demonstrated to advance a roadmap of research. We returned from Denver with renewed hope and feel empowered to wholeheartedly support epilepsy and CHD2 research, both here in Ireland and internationally.” 

At FutureNeuro, we are proud to support research that improves the lives of those affected by rare and complex neurological conditions. The CHD2 conference is a powerful example of how science, community, and lived experiences come together to drive meaningful progress. 

To learn more about CHD2 and the work of the Coalition to Cure CHD2, visit: https://curechd2.org.