This year’s conference will bring together SETBP1 families, researchers, clinicians, and advocates from around the world for three days of learning, collaboration, and community building. As always, our goal is to create a space where families feel supported, experts can share the latest research, and our global SETBP1 community can connect in meaningful ways.

What to Expect

• Expert‑led presentations on SETBP1 research, communication, therapies, and medical updates
• Family‑focused sessions designed to support caregivers and empower advocacy
• Opportunities to meet researchers, clinicians, and other SETBP1 families
• Community‑building activities and moments that remind us we’re never alone on this journey

Whether this is your first conference or your fifth, we can’t wait to welcome you to Austin for a weekend filled with learning, connection, and hope.

👉 Register now: https://www.setbp1.org/2026-conference

👉 Learn more: https://www.setbp1.org/2026-conference

We look forward to seeing you in Austin!

The post Registration Is Now Open for the 2026 SETBP1 Family & Research Conference! appeared first on SETBP1 Society.

In early 2026, 111 parents and caregivers participated in this community survey, sharing their experiences, challenges, insights, and successes related to speech, language, AAC, and communication development in individuals with SETBP1 conditions.

The report includes responses from SETBP1 Bees ranging in age from 1 to 41 years old and highlights the wide range of communication profiles seen across our community.

What’s Included in the Report?

The report features:

• Summary findings and trends from the survey
• Parent and caregiver suggestions
• Communication supports families found helpful
• Approaches that did not work well for some individuals
• Information about AAC, gestures, speech development, and multimodal communication
• Speech and communication profiles across different ages and abilities
• Community perspectives and lived experiences

We hope this report helps families, therapists, educators, clinicians, and researchers better understand the diverse communication journeys within the SETBP1 community.

Available in Multiple Languages

To help make this resource accessible to more families worldwide, the report is available in 6 languages, including English.

Available languages:

• English
• Dutch
• French
• German
• Italian (coming soon)
• Portuguese
• Spanish

Check Out the Survey Report

You can view the survey report here:

• English Report->
• Dutch Report->
• French Report->
• German Report->
• Italian Report (coming soon)
• Portuguese Report->
• Spanish Report->

If your website supports automatic language detection, visitors can also be redirected to the version that matches their selected website language.

Thank You to Our Community

A huge thank you to every parent and caregiver who took the time to participate in this survey and share your experiences. Your contributions are helping build a stronger understanding of communication development in SETBP1 haploinsufficiency disorder and related disorders and will help guide future family resources, research, and clinical discussions.

We are grateful to our entire SETBP1 community for continuing to share knowledge, support one another, and help advance understanding together.

The post New Parent Speech & Communication Survey Results Report Now Available appeared first on SETBP1 Society.

This spring, we’re bringing our community two exceptional learning opportunities — each led by world‑renowned experts who have shaped what we know about SETBP1 neurodevelopmental disorders. Whether you’re a newly diagnosed family or have been part of our community for years, these sessions offer clarity, connection, and the chance to ask your most important questions.

🔍 Different Faces of SETBP1: An Ongoing Journey

Live Webinar — Saturday, April 11th
11:00am CDT / 12:00pm EDT / 6:00pm CEST

We’re honored to welcome Bregje van Bon, MD, a clinical geneticist and the Head of Clinical Genetics at Radboud University Medical Center in Nijmegen, the Netherlands. Dr. van Bon was one of the first specialists to recognize that SETBP1‑HD is distinct from SETBP1‑RD, and she has now seen more individuals with SETBP1 than any other clinician in the world.

In this session, Dr. van Bon guided us through the evolving understanding of SETBP1 neurodevelopmental disorders — from the earliest cases to what we know today. Families gained a clearer picture of the clinical landscape, how thinking has shifted over time, and what these insights mean for care and research.

A live Q&A followed, giving parents a rare opportunity to speak directly with one of the field’s leading experts.

🗣️ SETBP1 Communication Landscape

Live Webinar — Wednesday, May 13th
5:00pm CDT / 6:00pm EDT / 11:00pm UK / Thursday, May 14th 8:00am AEST

Communication is one of the most important — and often most complex — parts of the SETBP1 journey. We’re thrilled to host Prof Angela Morgan and Marissa Mitchel, two speech‑language pathologists and researchers who work closely with our SETBP1 Bees and have contributed foundational insights to the field.

Together, they’ll explore:

• Core motor speech features such as Childhood Apraxia of Speech (CAS) and Dysarthria
• How these differ from general speech delay
• Evidence‑based approaches that best support our kids
• Findings from the Parent Communication & Speech Therapy Survey
• SETBP1 communication resources available to families

This webinar is a chance to deepen your understanding of your child’s communication profile and learn directly from experts who have spent years studying SETBP1 speech and language.

The post Two Powerful SETBP1 Webinars You Won’t Want to Miss appeared first on SETBP1 Society.

We’re thrilled to announce that the SETBP1Strong Team is officially riding in the 2026 Million Dollar Bike Ride (MDBR)!

On June 13th, 2026, we’ll gather in Philadelphia, PA—and around the world—to raise critical funds for SETBP1 neurodevelopmental disorder research.

The Million Dollar Bike Ride brings together rare disease families, friends, and supporters for one powerful purpose: fueling research that changes lives. And the best part? 100% of every dollar raised goes directly to SETBP1 research grants.

🚴‍♀️ How You Can Participate

Join the SETBP1Strong Team in whatever way works for you:

• Ride in person (10, 30, 52, or 70 miles)
• Walk the Million Dollar Mile
• Volunteer in Philadelphia
• Or participate virtually — ride, walk, or fundraise from anywhere in the world

Early registrants receive MDBR gear and a SETBP1Strong team shirt.

🎯 Our 2026 Goals

• Raise $60,000 for SETBP1 research
• Recruit 15+ in‑person riders and volunteers
• Bring SETBP1 families and supporters together to push SETBP1 science forward

🧡 Join the Team

All details and registration options are here:
👉 https://www.setbp1.org/mdbr/

We can’t wait to ride, walk, cheer, and make an impact together — in Philadelphia or wherever you are.

Thank you for helping us move SETBP1 research forward!

SETBP1Strong 🚴‍♂️🧡

The post SETBP1Strong Returns to the Million Dollar Bike Ride 2026! appeared first on SETBP1 Society.

Austin, Texas • November 6–8, 2026
DoubleTree Suites by Hilton Austin Downtown Capitol

We’re excited to announce the dates for our next SETBP1 Family & Research Conference, bringing together families, clinicians, and researchers from around the world for a weekend of connection, learning, and collaboration.

🌟 Mark Your Calendar

📅 November 6–8, 2026
📍 DoubleTree Suites by Hilton Austin Downtown Capitol
Austin’s vibrant culture, central location, and proximity to several SETBP1 research partners make it the perfect home for our 2026 gathering.

🌱 Theme: Cultivating Connections

This conference is designed to strengthen relationships across our global SETBP1 community — families, clinicians, therapists, and researchers — while sharing the latest science, lived experiences, and practical supports.

🧬 Help Us Shape the 2026 Conference

To ensure the conference reflects the needs and priorities of our community, we invite you to complete a brief interest survey:

For SETBP1 Families:

Tell us which topics, supports, and sessions matter most to your family — and let us know whether you’re planning to join us at the conference.
Family Interest Survey: Survey Link

For SETBP1 Researchers, Medical Specialists, and Non-Family Members:

Please indicate whether you plan to join us at the conference and how you anticipate participating (e.g., attending, presenting, collaborating on research activities).
Researcher Interest Survey: Survey Link

The post Save the Date: 2026 SETBP1 Family & Research Conference appeared first on SETBP1 Society.

Understanding how individuals with SETBP1 haploinsufficiency disorder and related disorders communicate, and how families support that communication, is one of the most important priorities in our community. Today, we’re excited to share the launch of our new SETBP1 Parent Communication & Speech Therapy Survey, created to gather meaningful insights from families around the world.

This survey focuses on the everyday communication abilities of children and adults with SETBP1, the therapies they receive, and what families have found helpful (or not helpful) along the way. By hearing directly from parents and caregivers, we can better identify common patterns, highlight strengths, and understand where additional support or resources are needed.

What the Survey Covers

This short survey (about 15 minutes or less) asks about:

• Your child’s communication abilities across different areas
• Speech, language, and communication therapies they currently receive
• Strategies or supports that have been effective
• How communication skills have changed over time
• Differences in experiences across countries and regions

If you have more than one child with a SETBP1 neurodevelopmental disorder, we ask that you complete the survey separately for each child. Only one parent or caregiver per family needs to participate.

Available in 8 Languages

To ensure accessibility for families worldwide, the survey is now available in:

• English
• Nederlands
• Français
• Deutsch
• Italiano
• Português (Brasil)
• Português (Portugal)
• Español

This multilingual effort reflects our commitment to making SETBP1 research inclusive and representative of our global community.

Why Your Participation Matters

Every completed survey adds to a growing body of knowledge that helps:

• Researchers understand communication strengths and challenges
• Clinicians tailor therapy recommendations
• Families learn from shared experiences
• The SETBP1 Society advocate for better resources and support

Your voice directly contributes to improving care, guiding future research, and strengthening our global SETBP1 community.

Take the Survey
👉 SETBP1 Parent Communication & Speech Therapy Survey

Thank you for taking the time to share your family’s experience. Together, we are building a clearer, more informed picture of communication in SETBP1 and helping shape a brighter future for all of our families.

Your experiences help shape the future of SETBP1 research, clinical guidance, and family support and we are deeply grateful for every response.

The post SETBP1 Parent: Communication and Speech Therapy Survey appeared first on SETBP1 Society.

This latest study—the largest of its kind—found a strong genetic link between motor speech disorders and SETBP1

We are excited to share the latest installment in our SETBP1 Genetics: Bite-Sized Breakthroughs series — where we translate SETBP1-related scientific publications into clear, accessible summaries for our community. The latest featured paper found that changes in the SETBP1 gene—especially in children with SETBP1-HD—are strongly linked to severe motor speech problems, making SETBP1 an important gene to check when a child has serious difficulty speaking.

Key Takeaways

🔹 ~1 in 4 children with motor speech disorders had a clear genetic cause
🔹 SETBP1 was one of only two genes strongly linked to motor speech disorders
🔹 Children with SETBP1 variants were ~17× more likely to have severe motor speech challenges
🔹 Motor speech difficulties appear to be a core feature of SETBP1-HD

Download the full Bite-Sized Breakthrough (PDF):
https://www.setbp1.org/wp-content/uploads/2025/12/Bite-Sized_Breakthrough_Mitchel_12_21_2025.pdf

About the Bite-Sized Breakthroughs Series

The Bite-Sized Breakthroughs series is part of SETBP1 Society’s commitment to making scientific progress understandable and accessible. As research accelerates, we remain dedicated to ensuring families have the information and tools they need to stay informed and engaged.

The post SETBP1 Genetics: Bite-Sized Breakthroughs — Motor Speech Disorders appeared first on SETBP1 Society.

New Publication Identifies a Third, Distinct SETBP1-Related Neurodevelopmental Disorder

We are excited to share the latest installment in our SETBP1 Genetics: Bite-Sized Breakthroughs series — where we translate SETBP1-related scientific publications into clear, accessible summaries for our community. This month’s featured paper represents a major advancement in the understanding of SETBP1-related neurodevelopmental disorders and clarifies something the SETBP1 Society has been discussing for several years: a third, distinct condition within the SETBP1 spectrum.

For many years, SETBP1 genetic changes have been grouped primarily into two diagnostic categories: SETBP1 haploinsufficiency disorder (SETBP1-HD) and Schinzel-Giedion Syndrome (SGS). Each of these conditions is defined largely by the impact of the variant on SETBP1 protein levels. However, a growing number of families and clinicians have observed presentations that do not fit neatly into either category. The newly published study highlighted in this edition addresses this gap directly.

A Newly Defined Category: SETBP1-Related Disorder (SETBP1-RD)

The authors present the most comprehensive evaluation to date of individuals whose SETBP1 variants do not align with the established patterns of SETBP1-HD or SGS. Their work supports the recognition of a third, distinct condition now referred to as SETBP1-related disorders (SETBP1-RD). Unlike the other two disorders, SETBP1-RD is driven by loss-of-function mechanisms that are independent of SETBP1 protein quantity. Instead, the location and type of variant inform the biological effect and clinical presentation.

This distinction provides clarity for families whose children have long fallen into a diagnostic “gray area.” It also marks the first time this concept has been formally documented in a peer-reviewed publication—an important milestone for both clinical practice and scientific research.

Why Variant Information Matters

The findings in this study reinforce why SETBP1 Society emphasizes collecting detailed variant information through our Contact Registry. Having the specific SETBP1 change allows researchers to more accurately classify individuals, identify common pathways, and connect families with similar variants. Granular genetic information is increasingly crucial as the field moves toward more personalized approaches in research and, ultimately, in potential therapeutic development.

What This Means for Families and the SETBP1 Community

For many families, this publication may help explain why their child’s clinical features have not matched what is typically seen in SETBP1-HD or SGS. Having terminology that better reflects their child’s underlying biology can support more accurate communication with clinicians, more tailored care planning, and greater alignment with ongoing research.

More broadly, recognizing SETBP1-RD as a distinct condition strengthens the scientific foundation needed to improve diagnosis and natural history studies. It also highlights the growing understanding that SETBP1-related neurodevelopmental conditions exist along a wider and more nuanced spectrum than previously known.

Read the Full Bite-Sized Summary

Our summary distills the key findings of this publication into an approachable overview that highlights what is most relevant for families and the broader community.

Download the full Bite-Sized Breakthrough (PDF):
https://www.setbp1.org/wp-content/uploads/2025/12/Bite-Sized_Breakthroughs_2025_12_15.pdf

About the Bite-Sized Breakthroughs Series

The Bite-Sized Breakthroughs series is part of SETBP1 Society’s commitment to making scientific progress understandable and accessible. As research accelerates, we remain dedicated to ensuring families have the information and tools they need to stay informed and engaged.

The post SETBP1 Genetics: Bite-Sized Breakthroughs — SETBP1-Related Disorders appeared first on SETBP1 Society.

References/Resources:

• Zebrafinch:
  • https://www.nature.com/articles/s41598-024-75353-w
• FIbroblasts
  • https://www.setbp1.org/research/ 
• Zebrafish
  • https://www.setbp1.org/creation-of-zebrafish-models-to-provide-unique-insights-into-impact-of-setbp1-hd/ 
• Mice
  • https://www.jax.org/strain/033281# 
  • https://www.mousephenotype.org/data/genes/MGI:1933199 
  • https://www.setbp1.org/reversible-mouse/ 
  • https://www.setbp1.org/grant-award/ 
• Brain Organoids
• Whole Blood
  • ​​https://www.sfari.org/resource/simons-searchlight/ 
• Fibroblasts
  • https://www.setbp1.org/research/ 
• iPSCs
  • https://www.setbp1.org/grant-award/ 
  • https://pmc.ncbi.nlm.nih.gov/articles/PMC11443744/ 
  • https://www.setbp1.org/research/ 
  • https://www.sfari.org/resource/sfari-base/ 
• hESCs
  • https://pubmed.ncbi.nlm.nih.gov/36805818/ 
  • https://www.mousephenotype.org/data/genes/MGI:1933199 

Authored by Jordan Whitlock, PD – SETBP1 Society Science Coordinator

The post 2025 SETBP1-HD Model Overview Update appeared first on SETBP1 Society.

We’re excited to share the results of our 2025 SETBP1 Community Survey! 💙

This is the 2nd year SETBP1 Society invites parents, caregivers, and families around the world to share their experiences and insights through our community survey. These responses help us better understand how SETBP1 haploinsufficiency disorder (SETBP1-HD) and related disorders impact individuals and families—and guide our efforts to support you through advocacy, education, and research collaboration.

About the 2025 Survey

The 2025 Community Survey built upon the foundation of our 2024 effort, with a continued focus on understanding both the child and adult populations within the SETBP1 community. As the number of diagnosed adults continues to grow, this year’s survey also included a dedicated section to learn more about their experiences, strengths, and needs.

A total of 85 families participated in 2025, including 77 fully completed and 8 mostly completed surveys. For families who took part in both the 2024 and 2025 surveys, we included only your most recent responses to ensure the most accurate representation of our community today.

A Global Effort

This year’s survey was available in 7 languages — English, Dutch, French, German, Italian, Portuguese, and Spanish — making it more accessible to our global SETBP1 community. We’re deeply grateful to the volunteers who helped translate and share the survey, ensuring that every family could participate in the language they are most comfortable with. 🌍

View 2025 SETBP1 Community Results:

📖 English Survey Results

📖 Nederlands Enquête Resultaten (Dutch Survey Results)

📖 Français Résultats du Sondage (French Survey Results)

📖 Deutsch Umfrageergebnisse (German Survey Results)

📖 Italiano Risultati del Sondaggio (Italian Survey Results)

📖 Português Resultados da Pesquisa (Portuguese Survey Results)

📖 Español Resultados de la Encuesta (Spanish Survey Results)

What We Learned

The results provide valuable insights into daily life with SETBP1-HD and related disorders—from developmental milestones and communication to health and well-being, schooling, and medical care. The data also highlight how needs may change over time, emphasizing the importance of ongoing support and resources for both children and adults.

This information helps us:

• Identify shared challenges and priorities across the community.
• Guide future research collaborations with scientists and clinicians.
• Strengthen our advocacy for services and support programs worldwide.

Thank You

To every family who took the time to complete the survey—thank you. Your participation continues to drive our understanding of SETBP1-HD forward and ensures that the community’s voice remains at the center of everything we do.

Together, we are building knowledge, connection, and hope for everyone impacted by SETBP1 haploinsufficiency and related disorders. 💙

The post 2025 SETBP1 Community Survey Results Now Available appeared first on SETBP1 Society.