July 10-12, 2025
The CTNNB1 Connect & Cure 2025 Conference, held July 10–12 at Embassy Suites Waltham just outside Boston, brought together individuals with CTNNB1 syndrome, their families, clinicians, researchers, and industry representatives for an immersive and supportive multi-day gathering. Attendees also had the opportunity to participate in on-site assessments—such as natural history, EEG, a speech study, and biospecimen collection—without leaving the hotel, alongside creative child-focused activities including art therapy, music sessions, and sibling workshops.
Conference Photo Gallery
Recorded Sessions
Presentations
| Presentation | |
|---|---|
| CTNNB1 and MED13L: How are the genes related? Kellan Weston, PhD, COMBINEDBrain | Download |
| Investigating plasma proteomics for cross-disorder rare diseases biomarkers. Anna Pfalzer, PhD, Vanderbilt University | Download |
| Why "models" matter - one step in the journey to Clinical Trial Readiness. Rodney Samaco, PhD, Rare Collective Strategies | Download |
| Co-Diagnoses: What does this get you? Jennifer Bain, MD, PhD, Columbia University | Download |
| Speech: More to it than we think. Marissa Mitchel, Geisinger Institute | Download |
| Patient-focused outcome measurement in rare neurogenetic conditions. Natasha Ludwig, PhD, Kennedy Krieger Institute | Download |
| Clinical Characteristics of CTNNB1. Wendy Chung, MD, PhD, Boston Children's Hospital | Download |
| CTNNB1: a critical component of the Wnt signaling pathway. Kellan Weston, PhD, COMBINEDBrain | Download |
| CTNNB1 Gene Therapy: Update on development and clinical translation. Dr. Špela Miroševič, CTNNB1 Foundation, The Gene Therapy Research Institute | Download |
| The Pediatric Neurosurgeons Role in Advancing Rare Disease Therapeutics - Unique Position to Repurpose Tissue Waste. Ramin Eskandari, MS, MD, FAANS, Medical University of South Carolina | Download |
| CTNNB1 and the Eyes. Drew Scoles, MD, PhD, Children's Hospital of Philadelphia | Download |
| Microbial Clues to a Genetic Puzzle: The Gut Microbiome in CTNNB1 Syndrome. Mohammad Moshahid Khan, PhD, University of Tennessee | Download |
| Identifying efficacious treatments for CTNNBI Syndrome. Michele Jacob, PhD, Tufts University | Download |
| Flying to the clinic: Drug repurposing for CTNNBI Syndrome. Clement Chow, PhD, University of Utah | Download |
| Overview of Gene-Based Therapeutics. Matt Fuller, PhD, Ultragenyx | Download |
CTNNB1 Connect and Cure’s 2025 Conference took place right outside of Boston, Massachusetts! As our patient population and community grew, we were excited to offer two days of presentations. Friday, July 11th, was “Science Day,” where attendees heard updates directly from the researchers, clinicians, and experts. Saturday, July 12th, was “Family Day,” where parents, caregivers, family members, and friends connected and learned together.
We co-hosted the event with the MED13L Foundation, the patient advocacy organization for a rare disease that shares many similarities with CTNNB1 Syndrome. The full agenda included disease-specific topics, shared topics, as well as separate and shared community time. This collaboration allowed us to offer much more to our attendees, including meals, convenient on-site biospecimen collection, and meaningful connections in the broader rare disease community.
On-Site Research Opportunities
During the conference, families had the chance to participate in research assessments without having to leave the hotel. This included:
Natural History Study (Boston Children’s Hospital)
EEG Study (Columbia University and the University of South Carolina)
Speech Study (Geisinger)
Biospecimen Collection (COMBINEDBrain)
Kids Activities
We were thrilled to offer a variety of instructor-led activities throughout the conference, including creative projects, games, and hands-on experiences. Sessions lasted 45 to 60 minutes and were designed to be engaging for participants of all ages and abilities. Attendees were able to sign up for:
Art Therapy
Music Therapy
Children’s Book Review (Siblings Only)
Sibshop (Siblings Only)
Travel
Boston Area Maps and Public Transportation
Directions from Boston Airport to Embassy Suites Waltham Hotel
Please book your hotel stay using our room block (link also at the top of this page)
🔍 Looking to explore while you’re there? Here are some of Boston’s top attractions and activities:
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