CHD2 Family and Scientific Conference

Nearly 170 people attended our Family & Scientific Conference in Colorado from June 13-15, 2025. We heard from the incredible team at Children’s Hospital Colorado’s Chromosome 15 (CHD2) Clinic who shared things they’ve learned from caring for many CHD2 patients over the years; heard about exciting research for targeted CHD2 therapies using antisense oligonucleotides (ASOs) by Igor Ulitsky, PhD and Nael Nadif Kasri, PhD; and shared what it’s like for families to navigate the specific challenges of CHD2-related disorder.

We were thrilled to have a team from Simons Searchlight register families and collect blood samples from 20 patients and 37 family members that can be used by CHD2 researchers around the world. (You can register with Simons even if you didn’t attend. Visit their website here.)

The team from Dr. Heather Mefford’s lab at St. Jude Children’s Hospital also collected samples for their study at the conference. The samples will be used as part of a study of CHD2’s methylation signature, for which they received a partnership grant from CCC and CURE Epilepsy.

Families were offered opportunities to have free individual consultations with a genetic counselor from St. Jude and physical therapist, speech and occupational therapists from Children’s Hospital of Colorado — all of whom also spoke at the conference.

Our family room was a big hit, with special visits from the nearby Butterfly Pavilion, a music therapist and Denver Pet Partners. But the biggest hit for our young attendees was a special appearance by Bluey at our dinner and dance party Saturday night!