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.

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.

We’re thrilled to announce that SETBP1 Society has secured a $25,000 donation match from a generous donor for our SETBP1Strong Team—and that means every dollar you give now goes twice as far to accelerate research for SETBP1 haploinsufficiency disorder and related disorders!

Whether you’re a longtime supporter or just learning about SETBP1, now is the perfect time to donate or start your own fundraising page to help us reach our goal.

Join Us for the 2025 Million Dollar Bike Ride!

The University of Pennsylvania Orphan Disease Center (UPenn ODC) and SETBP1 Society invite you to be part of this inspiring annual event that brings together rare disease families, friends, and supporters to raise funds and awareness.

This year’s Million Dollar Bike Ride will be in-person in Philadelphia, with a virtual ride/walk option for supporters around the globe!

📍 Event Details:
Date: Saturday, June 14, 2025
Location: Philadelphia, PA (or virtually from anywhere!)
What You Can Do: Cycle or walk with us, fundraise, donate—or all three!

💯 100% of registration and fundraising proceeds go directly to SETBP1 research.

Why We Ride

This marks our 7th year participating as the SETBP1Strong Team, and every year we grow stronger thanks to the incredible support of our community. The funds we raise are making a real impact in advancing scientific research and supporting families affected by SETBP1-HD and related disorders.

Get Involved

Whether you’re ready to ride, walk, donate, or simply spread the word, there’s a way for everyone to participate:

🔗 Register or donate today!
Visit our Million Dollar Bike Ride page at SETBP1 Society or check out the full event details at the UPenn ODC MDBR page.

Let’s make 2025 our biggest year yet. Join the SETBP1Strong Team—and double your impact with our $25,000 match!

Registration is now OPEN!

The post Big News: $25,000 Donation Match for the SETBP1Strong Team at the 2025 Million Dollar Bike Ride! 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.

How will YOU Give Hope and Lend a Hand this 𝐺𝑖𝑣𝑖𝑛𝑔𝑇𝑢𝑒𝑠𝑑𝑎𝑦?

Here are some ways you can help:
1️⃣ Start a Fundraiser
– Create a SETBP1 GiveButter Fundraiser: Visit our SETBP1 Society GiveButter Fundraiser and click +𝗙𝘂𝗻𝗱𝗿𝗮𝗶𝘀𝗲 to set up your own page. Share it via social media, text, or email!
– Create a Facebook Fundraiser: Visit SETBP1 Society on Facebook, click 𝗥𝗮𝗶𝘀𝗲 𝗠𝗼𝗻𝗲𝘆 under Fundraisers, and share it with your network!
2️⃣ Share Your Story
– Post your personalized SETBP1 𝐺𝑖𝑣𝑖𝑛𝑔𝑇𝑢𝑒𝑠𝑑𝑎𝑦 image (created by SETBP1 Society) on your social media. Include your story to inspire others to give!
3️⃣ Spread the Word
– Share the main SETBP1 𝐺𝑖𝑣𝑖𝑛𝑔𝑇𝑢𝑒𝑠𝑑𝑎𝑦 Fundraiser at https://givebutter.com/SETBP1GT2024/ with friends, family, and coworkers.
4️⃣ Double Your Impact
– Ask your company to match your 𝐺𝑖𝑣𝑖𝑛𝑔𝑇𝑢𝑒𝑠𝑑𝑎𝑦 donations!

💡 What are we raising funds for?

Your contributions will fuel:
✨ The SETBP1 Society New Investigator Microgrant Program, bringing new researchers into SETBP1 studies.
✨ The SETBP1 Society Keep It Going Microgrant Program, supporting ongoing, exciting SETBP1 research.
Our 𝐺𝑖𝑣𝑖𝑛𝑔𝑇𝑢𝑒𝑠𝑑𝑎𝑦 goal is to raise $30,000. Every dollar makes a difference and brings us closer to life-changing advancements for families impacted by SETBP1.

Let’s come together to Lend a Hand and make an impact! 💪🧡

Donation Matching by SETBP1 Society Board*!

1. Match $100 for the SETBP1 𝐺𝑖𝑣𝑖𝑛𝑔𝑇𝑢𝑒𝑠𝑑𝑎𝑦 fundraiser with the most donors!
2. Match $100 for the SETBP1 𝐺𝑖𝑣𝑖𝑛𝑔𝑇𝑢𝑒𝑠𝑑𝑎𝑦 fundraiser that raises the most $!
3. Match $100 randomly for one of the SETBP1 𝐺𝑖𝑣𝑖𝑛𝑔𝑇𝑢𝑒𝑠𝑑𝑎𝑦 fundraisers that raises at least $200!

The post SETBP1 GivingTuesday 2024!! appeared first on SETBP1 Society.

Registration closes on September 20th so register NOW to secure your place.

Scholarship applications for the conference are available through August 30th.

Thank you to our Conference Sponsors!

The post Join us in Austin, TX for our Family Conference! appeared first on SETBP1 Society.

Early Bird (Discounted) Registration closes on August 21st so register NOW to secure your place.

Scholarship applications for the conference are available through August 30th.

Thank you to our Conference Sponsors!

The post Early Bird Registration Open till August 20th appeared first on SETBP1 Society.