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.

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.

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

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