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.

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.

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.

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.

What We Know About SETBP1-HD

SETBP1-HD is caused by changes in the SETBP1 gene, which plays a critical role in early brain development. Individuals with SETBP1-HD are haploinsufficient, meaning they have a loss of function in one copy of the gene, which results in the clinical manifestations of the disorder.

Thanks to years of collaboration between researchers, clinicians, and families, we now have a deeper understanding of the clinical spectrum of SETBP1-HD. In addition, scientists have developed cell lines and a growing number of animal models that are currently being characterized—crucial steps in identifying therapeutic targets.

We also recognize individuals who carry SETBP1 gene changes but present with overlapping features or uncertain molecular consequences. These individuals are classified as having SETBP1-related disorders (SETBP1-RD) and are a critical part of our research focus as well.

Our 2025 Research Strategy

To highlight our priorities and progress, we’ve developed a research strategy infographic (see above) outlining where we are now and where we’re headed. This framework reflects our current priorities as of May 2025, and emphasizes a full spectrum of research initiatives—from foundational discovery to real-world clinical application.

Key focus areas include:

• Foundational Science: Understanding SETBP1’s role in brain development and cellular function
• Model Development and Characterization: Utilizing cellular and animal models to uncover disease mechanisms
• Preclinical Research: Identifying and testing candidate therapies in laboratory settings
• Clinical Research: Designing and conducting studies that evaluate safety and effectiveness in humans
• Long-Term Monitoring: Building data systems and natural history studies to track outcomes over time

Each of these areas is essential to our long-term goal: identifying safe and effective treatments for individuals with SETBP1-HD.

Our Commitment

SETBP1 Society is deeply committed to transparency, collaboration, and education. We will continue to provide regular updates on our research strategy and actively support initiatives that move us closer to clinical solutions. Through strong partnerships and a unified community, we believe progress is not only possible—it’s already happening.

Together, we are SETBP1Strong.

Authored by Jordan Whitlock, PD – SETBP1 Society Science Coordinator

The post SETBP1 Society Research Strategy: A Roadmap Toward Treatments and Therapeutics appeared first on SETBP1 Society.

SETBP1 Society and the University of Pennsylvania Orphan Disease Center (UPenn ODC) invite you to participate in the Million Dollar Bike Ride. This annual giving festival brings together rare disease families, friends and supporters to cycle to raise funds for rare disease research and to spread awareness of rare disease. This year’s event will be an in-person event with the option to fundraise and ride virtually. The cycling and walking event will take place in Philadelphia, PA on Saturday, June 14th.

Our SETBP1Strong Team has participated for the past 6 years!

EVENT DETAILS
WHEN: Saturday, June 14th, 2025
WHERE: Philadelphia, PA, USA
You can ride in-person or virtually so you can show your support and ride/walk anywhere you choose.
NOTE: 100% of registration and fundraising money will go towards SETBP1 research!

Want more information? Check out the details at our MDBR page at SETBP1 Society or check out the UPenn ODC MDBR page at UPenn ODC!

The post 2025 SETBP1Strong Million Dollar Bike Ride appeared first on SETBP1 Society.

2/26/25, Kelsey Bennett

In October 2024, nearly 100 clinicians, researchers, families, and supporters gathered in Austin, TX, for the first-ever SETBP1-HD conference, organized by the SETBP1 Society. This groundbreaking event aimed to deepen understanding of SETBP1 haploinsufficiency disorder (SETBP1-HD), facilitate on-site research, and explore future possibilities for individuals affected by this rare disorder. Inspired by a 2022 Simons Searchlight conference that united four rare disease groups, SETBP1 Society’s President, Haley Oyler, recognized the value in bringing SETBP1 families together for a focused gathering.

“There is nothing like being in the same room with fellow parents who get you and understand your journey. The experience was even more powerful with the opportunity to share it with researchers to help them deepen their understanding of how SETBP1-HD and related disorders impact our children. With the guidance of Simons Searchlight, SETBP1 Society was confident and prepared to host our first-ever SETBP1 conference.” said Oyler.

The event, held at the Cambria Hotel Uptown in Austin, was made possible by generous sponsorships from the Simons Foundation, Floyd Family, Elleco Construction, UltraGenyx, and Imprint. It provided an emotional and educational experience, allowing families to connect with researchers and share insights about living with SETBP1-HD, while learning about the latest advancements in the field.

Understanding SETBP1-HD

SETBP1-HD is a rare genetic disorder caused by a loss-of-function mutation in the SETBP1 gene, which is essential for normal brain function. Those affected typically have speech delays, developmental and intellectual disabilities, motor delays, autism traits/autism, ADHD, and other challenges such as seizures, feeding issues, anxiety, and sleep disturbances. SETBP1-HD is often the result of spontaneous (de novo) mutations, meaning there is no family history of the disorder.

Collaboration Among Experts

The conference began with a research-focused day where global experts shared their findings on SETBP1 research, including cellular models, mouse and zebrafish models, and enzyme replacement therapy. Researchers from institutions such as Vita-Salute San Raffaele University, Radboud University, and University of Texas presented on topics ranging from SETBP1 protein modeling to EEG biomarker studies, creating collaborative opportunities for future research.

Linda Bossini, a researcher at Vita-Salute San Raffaele University, emphasized the value of understanding clinical perspectives: “Gaining insights into the clinical aspects was incredibly valuable, helping us align our research with the needs and challenges faced in clinical practice.”

A Day for Families

The second day of the conference focused on the families and their experiences. Presentations included updates from the Simons Searchlight SETBP1 registry, with Dr. Cora Taylor sharing key data, and insights from Dr. Bregje van Bon on the SETBP1 Clinic in the Netherlands. Researchers also presented their progress on behavior assessments, animal models, cognitive evaluations, and EEG studies, with 12 patients participating in EEG screenings by the B-RAD team and onsite blood draws by Searchlight. These presentations were framed by updates on the SETBP1 Society’s progress, highlighting achievements from the past year and milestones that have been achieved since its founding in 2017.

A major focus of the conference was promoting independence for individuals with SETBP1-HD. A panel discussion featured advocates and experts like Steve Friedman, a parent, advocate, and author, alongside his independent daughter, Gwendolyn Friedman, special needs finance expert Barbara Bush and Monica Gelinas, founder of CC4C. They offered families valuable resources for fostering independence and supporting their loved ones.

Emotional Connections and Support

The conference also provided dedicated spaces for parents and grandparents to share their experiences. These breakout sessions focused on the unique joys and challenges of raising children with SETBP1-HD, with many discussions centered on educational support and school settings.

The day ended on a high note with a dance party, where families, researchers, and children celebrated the success of the conference. “The dance was pure joy. Watching all of the children just having a blast brought joy to my heart,” said Sonya Dearman, a grandmother of a SETBP1 “bee.”

Rare Disease Day

As Rare Disease Day approaches on February 28, 2025, the conference serves as a reminder of the importance of community, collaboration, and research in advancing care for those affected by rare disorders like SETBP1-HD. The SETBP1 Society’s first conference exemplifies how shared experiences and collective efforts can create a brighter future for individuals living with rare diseases, empowering them to live more independent and fulfilling lives.

To support SETBP1 research and families, visit https://givebutter.com/DonateSETBP1 or learn more at https://www.setbp1.org/.

Read the press release online

The post First ever international SETBP1 conference brings together families, researchers, and supporting organizations appeared first on SETBP1 Society.

Breaking down new breakthroughs in SETBP1 research in an easy to digest way

Welcome to our 5th “SETBP1 Genetics: Bite-sized Breakthrough”.

This time, we are looking at a breakthrough article published in Molecular Autism in 2024 by Dr Nicole Shaw and Dr Vanessa Fear from Telethon Kids in Australia. This publication titled Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling provides insight into the use CRISPR/Cas9 genome editing technology in pluripotent stem cells to uncover the molecular underpinnings of specific variants in SETBP1-HD.

Check out this short read by our Scientific Coordinator, Jordan Whitlock HERE

Check out our other SETBP1 Genetics: Bite-Sized Breakthroughs HERE

Read the full publication HERE

The post Bite-Sized Breakthroughs – February 6, 2025 appeared first on SETBP1 Society.