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Message HOPEACTIONinCTNNB1 Conference 2025July 10 - 12, 2025Waltham, MassachusettsUNITING CAREGIVERS, FAMILIES, PATIENTS, RESEARCHERS, CLINICIANS,INDUSTRY REPRESENTATIVES, AND ADVOCATES TO ADVANCERESEARCH, SHARE KNOWLEDGE, AND STRENGTHEN CONNECTIONS
We are called CTNNB1 Connect and Cure for a reason.We connect families, researchers, clinicians, and advocates across the globe - becauseprogress happens faster when we work together. And we fight for a cure - because ourchildren deserve treatments, breakthroughs, and a future full of possibilities.We know there’s no one solution for CTNNB1 Syndrome. That’s why we are diversifying ourresearch efforts, pursuing every promising path - from a novel small molecule drug todrug repurposing (looking at already FDA-approved medications) and the developmentof an mRNA therapeutic. Our goal is to give every individual with CTNNB1 Syndrome thebest possible chance at a healthier, more fulfilling life.This work is personal. It’s passionate.It’s powered by the fierce love of families, the brilliance of researchers, and theunstoppable spirit of our CTNNB1 community.Thank you for being here - as a parent, a caregiver, a sibling, a scientist, a clinician, adonor, or a friend. You are part of the movement. You are part of the connectingstrength. You are part of the cure. Let’s keep flying forward, together.-The CTNNB1 Connect & Cure TeamCTNNB1 Connect and Cure isa nonprofit organizationdedicated to findingtreatment options and acure for CTNNB1 Syndromewhile improving the lives ofour patients andcommunity.To create a world whereevery family affected byCTNNB1 Syndrome hasaccess to safe andeffective treatments anda supportive community.TransparencyTeamworkIntegrityMISSIONVISIONCOREVALUESA B O U T 2
W E L C O M EDear Families and Professionals,Welcome to our second in-person CTNNB1 Conference! We are thrilled to haveyou join us for a powerful weekend grounded in connection, learning, and—mostimportantly—HOPE in ACTION.Once again, attendees have traveled from across the globe to be here, united bya shared commitment to advancing understanding and care for individuals withCTNNB1. This event is more than a conference—it’s a space where hope becomestangible through collaboration, knowledge-sharing, and community.Here in the welcoming town of Waltham, Massachusetts—just outside of Boston—families, caregivers, clinicians, researchers, and industry leaders are comingtogether to listen, learn, ask questions, and build relationships that will last longafter the weekend ends. With over 200 adults and 60 children in attendance, weknow this experience will spark meaningful connections and lasting friendships.Our exceptional lineup of speakers will share the latest developments in clinicalcare and CTNNB1 research as well as meaningful support for families. We’redeeply grateful they’ve taken time from their busy practices and summerschedules to be here with us.This weekend would not be possible without the incredible support of oursponsors, grantors, and the hard work of our conference volunteers. Thank youfor standing with us as we strive for a brighter future for our loved ones.With hope and gratitude,Emily AmersonPresident, CTNNB1 Connect & Cure3
DrakeLoungeH O T E L M A P1st Floor7th FloorBrandeisBentleyBabsonOfficeLobby Grille701702703704705706707709710711714715716717719720721722723724725726727728729730 731 732733734 735 736737743742741740739738(Mezzanine)(Lounge)Pool (ADA Entrance)Pool (Stair Entrance)& Fitness Center2nd FloorMezzanine(Lounge)Hastings(Mezzanine)(Lounge)3rd FloorBriar4
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10:30 AM - 10:55 AM BREAK 8:30 AM - 8:35 AM Welcome and Introductions Emily Amerson, MS, CTNNB1 Connect & Cure; Katie Boychuck, The MED13L Foundation 8:35 AM - 10:30 AM Clinical Trial Readiness CTNNB1 and MED13L: How are the genes related? Kellan Weston, PhD, COMBINEDBrain Why “models” matter - one step in the journey to Clinical Trial Readiness Rodney Samaco, PhD, Rare Collective Strategies Co-Diagnoses: What does this get you? Jennifer Bain, MD, PhD, Columbia University Speech: More to it than we think Marissa Mitchel, Geisinger Institute Patient-focused outcome measurement in rare neurogenetic conditions Natasha Ludwig, PhD, Kennedy Krieger Institute Investigating plasma proteomics for cross-disorder rare diseases biomarkers Anna Pfalzer, PhD, Vanderbilt University8:50 AM9:05 AM9:20 AM9:35 AM9:50 AM10:05 AM Session Q & A10:20 AMDrake BallroomDrake Ballroom 10:55 AM - 11:45 AM Understanding the Disease Clinical Characteristics of CTNNB1 Wendy Chung, MD, PhD, Boston Children’s Hospital Session Q & A CTNNB1: a critical component of the Wnt signaling pathway Kellan Weston, PhD, COMBINEDBrain11:00 AM11:15 AM11:30 AMDrake Ballroom A & B 11:45 AM - 12:45 PM LUNCH Presented by Builders FirstSource® 12:45 PM - 1:45 PM CTNNB1 Systems & Symptom Management 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 Microbial Clues to a Genetic Puzzle: The Gut Microbiome in CTNNB1 Syndrome Mohammad Moshahid Khan, PhD, University of Tennessee Session Q & A CTNNB1 and the Eyes Drew Scoles, MD, PhD, Children’s Hospital of Philadelphia12:50 PM1:05 PM1:20 PM1:35 PMDrake Ballroom A & B 1:45 PM - 2:00 PM BREAK 2:00 PM - 3:15 PM CTNNB1 Therapeutic Pipeline Identifying efficacious treatments for CTNNB1 Syndrome Michele Jacob, PhD, Tufts University Session Q & A mRNA boosters: a novel gene therapy that enhances protein expression Jeff Coller, PhD, Johns Hopkins University2:05 PM2:20 PM3:05 PMDrake Ballroom A & B Flying to the clinic: Drug repurposing for CTNNB1 Syndrome Clement Chow, PhD, University of Utah CTNNB1 Gene Therapy: Update on Development and Clinical Translation Špela Miroševič, PhD, CTNNB1 Foundation2:35 PM2:50 PM 3:15 PM - 3:25 PM Closing Remarks Emily Amerson, MSDrake Ballroom A & B 6:30 PM - 6:45 PM CTNNB1 GROUP PHOTO 3:25 PM - 5:00 PM CTNNB1 COMMUNITY CONNECTIONS Early Years Exchange (Hastings Room), Middle Years Meet-Up (Babson Room), Teen & Transitions Talk (Bentley Room) 5:00 PM - 6:30 PM EMBASSY SUITES EVENING RECEPTION 6:45 PM - 7:45 PM CTNNB1 PIZZA DINNER Presented by Special Needs Companies 7:45 PM - 8:30 PM CTNNB1 DANCE PARTYFRIDAY - JULY 11 - SCIENCE DAY6TM
8:30 AM - 8:35 AM Welcome Back Emily Amerson, MS, CTNNB1 Connect & Cure; Katie Boychuck, The MED13L Foundation 8:35 AM - 9:30 AM Looking to the Future While Navigating the Now Overview of Gene-Based Therapeutics Matt Fuller, PhD, Ultragenyx Behavior: Ask me anything Cora Taylor, PhD, Geisinger Institute8:40 AM9:00 AM 9:30 AM - 11:00 AM Open Forum: CTNNB1 and MED13L Family Experiences Panel Moderator: Mary Frances Garber, MS, CGC CTNNB1 Parents: Julie Anderson, Meghan Tillery, and Jana Brown MED13L Parents: Becca Wuest, Inon Shampanier, and Cheryl Linklater 1:00 PM - 1:35 PM Caring for the Caregiver Self Care Michelle Seaver, LMFT, MED13L Parent Inspiration for Tomorrow Mary Frances Garber, MS, CGC1:05 PM1:20 PM 11:00 AM FULL GROUP PHOTO 11:15 AM MED13L GROUP PHOTO 11:30 AM CTNNB1 GROUP PHOTO 11:45 AM - 1:00 PM LUNCH Presented by Builders FirstSource® 1:35 PM - 1:45 PM Closing Remarks Emily Amerson, MS, CTNNB1 Connect & Cure and Katie Boychuck, The MED13L Foundation 2:30 PM - 4:00 PM CTNNB1 COMMUNITY CONNECTIONS: SPLASH SOCIAL! 5:00 PM - 6:30 PM EMBASSY SUITES EVENING RECEPTIONS A T U R D A Y - J U L Y 1 2 - F A M I L Y D A YDrake BallroomDrake BallroomDrake BallroomDrake BallroomDrake Ballroom7Embassy Suites Pool
Advancing Science. Supporting Families. Strengthening Communities.At the Simons Foundation, we believe that science has the power to transformlives. Through strategic funding and collaborative initiatives, we supportgroundbreaking research in autism, rare genetic conditions, andneurodevelopmental disorders.Learn more at www.simonsfoundation.orgAt Edward Jones, we know that life’s biggest milestones—and challenges—requiremore than just financial planning. They require trust, personal attention, and apartner who understands what truly matters to you.Whether you’re saving for long-term care, planning for your child’s future, orsupporting a cause close to your heart, we’re here to help you navigate withconfidence.Connect with a local Edward Jones financial advisor today at edwardjones.comYour Goals. Your Journey. Our Guidance.8
K I D S A C T I V I T I E S9KIDSPCAMArtArtTherapyTherapyFriday: 8:00AM - 3:30PMSaturday: 8:00AM - 2:00PMHastings RoomMusic T herapy45-Minute SessionsChildren’s Book Review45-Minute Sessions1-hour Sessions Bentley RoomFor SIBLINGS of Individuals with MED13L or CTNNB1Childcare for children ofall ages and abilitiesprovided by CorporateKids Events, Inc.Bentley Room1-hour SessionBabson RoomBriar Room
Advocating for Policy. Empowering the Rare Disease Community.The EveryLife Foundation drives change through policy—not by funding research,but by ensuring it reaches those who need it.We equip patients and families to speak out, influence legislation, and create afuture where rare disease isn’t overlooked.Turn your voice into action. everylifefoundation.org | @EveryLifeOrgEvery Life Deserves a Voice.Event Meals Sponsored By10
R E S E A R C H O P P O R T U N I T I E Sjessica.waxler@childrens.harvard.eduNatural History StudyMedical IntakeNeuropsychological AssessmentMotor AssessmentThe Grille & Various 7th Floor Suitesmwmitchel@geisinger.eduSpeech StudyAssessments of individuals with CTNNB1,3-21 years old who communicate verballywith word-level speechSuites 701 & 702daniellemoberg@combinedbrain.orgBiospecimen CollectionBrandeis RoomCollecting: blood saliva, urine,nasal swabs, and/or fecesrmace@email.sc.eduEEG StudySuites 726, 727, 728Non-invasive short EEG monitoringto analyze brain activity and lookfor CTNNB1-related patternsNote: Not everyone will be eligible for every study and not every opportunity will allow day-of enrollment.AT THE CONFERENCEONGOING REGISTRIES &FUTURE STUDIES11A special thank you to&For providing lunch to thoseparticipating in researchon Thursday!
HASTINGSROOMEarly Years ExchangeMiddle Years Meet-UpTeens & Transitions TalkFriday, July 11, 3:45 PM - 4:30 PMBABSONROOMBENTLEYROOMSaturday, July 12, 2:30 PM - 4:00 PMS P L A S HS P L A S HS O C I A LS O C I A LAll families staying at the hotel are welcome to join!Take a break from the sessions and join other dragonfly families for some family-to-family connection time.Family Connection Circles are relaxed, age-specific gatherings designed to foster conversation, support, andshared experience. Whether you’re navigating early diagnosis, school years, or the transition to adulthood,these circles offer space to connect, reflect, and build community—together.The hotel pool has an ADA entrance at the end of theballroom hallway and a stair entrance on the 2nd floorC T N N B 1 C O M M U N I T Y C O N N E C T I O N S12
H E L P S U P P O R T O U R M I S S I O NOur CTNNB1 community is the engine behind theprogress we’re making—and family-ledfundraising is one of the most powerful ways toaccelerate research. Whether it’s a birthdaycampaign, bake sale, or Facebook fundraiser,your efforts directly support the research,support, and hope that fuel our mission.We know fundraising can feel overwhelming, butyou don’t have to do it alone. We’re here tosupport you every step of the way withresources, templates, and ideas tailored to yourcomfort and capacity.DONATEFUNDRAISEOur volunteer-run organization is aDelaware nonprofit corporationunder Internal Revenue CodeSection 501(c)(3).Donate today and help us pavethe way for a brighter tomorrow!Get started today!13
T H A N K Y O U T O O U R S P O N S O R SThank You! We are thrilled you have chosen to spend your weekendwith us, making connections and working together towards a unitedvision: a world where every family affected by CTNNB1 Syndrome hasaccess to safe and effective treatments and a supportive community.Get Involved! To learn how you can participate in one of our researchstudies, volunteer, become a Regional Ambassador, or support ourmission through a donation, visit www.curectnnb1.org or contact us atinfo@curectnnb1.org.