Dear Family, Friends, and Partners of CTNNB1 Connect & Cure,
We’ve had so much to celebrate these past few months, and we’re excited to share all the momentum with YOU—our amazing community of donors, families, researchers, and advocates.
Dr. Jeff Coller’s Groundbreaking mRNA Research at Johns Hopkins University
Last year, we participated in the Million Dollar Bike Ride and raised over $63,000 in grant funding. That grant was awarded to Dr. Jeff Coller at Johns Hopkins University His team developed mRNA boosters that significantly increased beta-catenin protein production in lab tests using cell and animal models!
Revolutionizing Treatment Paths with Drug Repurposing: Dr. Clement Chow’s Research Project at the University of Utah
We are thrilled to announce that Dr. Clement Chow from the University of Utah has been awarded a $77,000 research grant by CTNNB1 Connect and Cure to kick off our Drug Repurposing Project! His team is using a drosophila animal model (fruit fly) to screen for FDA-approved drugs that could potentially benefit individuals with CTNNB1 Syndrome. Drug repurposing offers a faster, cost-effective path to finding treatments, bypassing years of early-stage drug development. Hits will be validated and then communicated to the community this summer!
Stay tuned for exciting updates on our mRNA Research, Drug Repurposing Project, and the progress of our Small Molecule Drug. We're making strides every day and these breakthroughs wouldn’t be possible with YOU!
Rare Disease Day Recap
Rare Disease Day (February 28th) was a HUGE success! We raised $7,000 through our $28 for the February 28th campaign, significantly more than last year. We were featured in the news, received multiple proclamations recognizing Rare Disease Day, and showed our stripes in honor of those living with CTNNB1 Syndrome. Effie Parks was invited to speak at the Broad Institute's 10th Annual Rare Disease Day Event, where she spoke on “The Stories that Shape Rare Disease Advocacy."
The Swift Family received a Rare Disease Day Proclamation from the Blount County Mayor in TN. Effie Parks co-hosted a Rare Disease Day celebration in San Diego in honor of her dragonfly, Ford, which brought together friends, families (including the Tillerys), scientists, biotech leaders and academics.
Awareness in the Cerebral Palsy Community and Advocacy for Genetic Testing
March was Cerebral Palsy (CP) Awareness Month and the CTNNB1 community showed up to raise awareness that roughly 1 out of every 3 Cerebral Palsy cases has a genetic cause. In fact, CTNNB1 Syndrome is one of the most frequent genetic causes of CP!
We participated in GeneDx's Cerebral Palsy campaign, including two articles highlighting the importance of genetic testing from CTNNB1 families. Our President, Emily Amerson, was the opening speaker for their monthly All Hands leadership and staff meeting.
We participated in the Cerebral Palsy Awareness Photo Contest where CTNNB1 Dragonfly, Evelyn Swift (left), received honorable mention and CTNNB1 Dragonfly, Elijah Sise (right), made the top 5.
Knowledge is Power
Our President, Emily Amerson, has been immersing herself in all things rare disease, soaking up knowledge from leading experts in rare disease drug development and connecting with fellow change-makers. So far this year, she has attended two workshops and spoke on a panel at Global Genes' Rare Advocacy Exchange.
Racing Toward Progress
A dedicated CTNNB1 dad, Patrick Cowgill, has been repping CTNNB1 for years in Sim Racing. He recently setup and sponsored a SimGamingExpo race on behalf of CTNNB1 Connect and Cure. We are so thankful for a community that shows up in so many ways to increase our visibility, fueling our progress!
🎉 So far in 2025, we have raised a total of
$141,000! 🎉
Thank you to everyone who donated or helped fundraise to fuel our incredible progress!
We would like to extend a special shoutout to the O’Mara, Fimple, Hubert, Norbut, Houman and Baird Families for making the annual New Jersey CTNNB1 Benefit a huge success - raising an incredible $30,000!
Welcoming New Team Members
We are excited to announce that Crawford McWilliams has joined our board as the new Director of Fundraising! Crawford is excited to bring us one step closer to finding a cure for our children.
Kellan Weston, PhD, has been appointed as our new Science Director. Her expertise and vision promise to elevate our research endeavors to new heights.
We’re thrilled to announce that we’ll be hosting the CTNNB1 Connect and Cure Conference this summer in Boston, MA, from July 10–12, 2025, with clinical research participation opportunities available Wednesday, July 9th through July 13th!
This multi-day event will bring together families, researchers, clinicians, and advocates from around the world for a weekend of science, support, and community. It’s a unique opportunity to fuel collaboration, share breakthroughs, and build hope for everyone affected by CTNNB1 Syndrome.
Help make the event a success by supplying a one-time donation, monthly donation or becoming a conference sponsor.
For more information about becoming a conference sponsor, please email [email protected].
