Collaboration Archives - SETBP1 Society

Registration Is Now Open for the 2026 SETBP1 Family & Research Conference!

haley — Thu, 14 May 2026 14:59:21 +0000

We are thrilled to announce that registration is officially open for the 2026 SETBP1 Family & Research Conference, taking place November 6–8, 2026 in Austin, Texas at the DoubleTree Suites by Hilton Austin Downtown Capitol.

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!

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SETBP1-HD/SETBP1-RD Education Guide

haley — Mon, 22 Sep 2025 19:31:41 +0000

My name is Sophie, and I’m a clinical-community psychology Ph.D. student at the University of South Carolina in the Brain Research Across Development (B-RAD) Lab under the mentorship of Dr. Caitlin Hudac. Many of you may know me from doing EEGs with your children at the 2024 Family and Researcher Conference, 2025 Million Dollar Bike Ride, or in your homes as part of the B-RAD Lab BIOGENE study.

When I started graduate school in 2024, I was eager to study rare genetic conditions and use brain-based tools to understand how people grow, learn, and regulate their emotions. To my surprise, my very first project wasn’t about the brain at all; I needed to get to know the SETBP1 community and learn how I could support families directly. That’s when Haley and the rest of the SETBP1 community welcomed me in. Through conversations in formal meetings, in between talks at events, while setting up our EEG equipment in a living room or a kitchen, or at the zoo, one thing became very clear: how difficult it can be to find, organize, and keep track of resources despite the immense effort from families. Based on results from a SETBP1 parent survey conducted as part of a previous SETBP1 Community Research Study (SCoReS), a proposal was developed to provide resources. Building on this, we decided to create a single, accessible guide that brings together as many resources as possible in one place.

I have had the privilege of talking with families, professionals, and researchers to learn what information would be most helpful. Many of you pointed me to resources, shared your stories, or contributed quotes that became my favorite part of the guide. With invaluable support from Haley and the B-RAD Lab team (especially Liv Mace, Wae Man Chan, and Ashlan Cheever), we gathered information from scientific articles, SCoReS research, other rare communities, and, most importantly, the voices of SETBP1 families themselves to create the SETBP1-HD/RD Education Guide.

This guide covers genetics, co-occurring conditions, therapies, education, advocacy, caregiver self-care, siblings’ experiences, developmental stages, and more. While no guide can ever contain everything, our hope is that this one makes a new diagnosis, a new developmental stage, or a new challenge feel just a little more manageable. Thank you to every family who trusted me with your time, stories, and insights—and a special thank you to Haley, without whom this project would not exist. This guide is for you and because of you.

Link: SETBP1-HD/SETBP1-RD Education Guide

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SETBP1 Society Research Strategy: A Roadmap Toward Treatments and Therapeutics

haley — Thu, 29 May 2025 20:00:00 +0000

At SETBP1 Society, we are committed to a singular mission: advancing research that leads to effective treatments and improved quality of life for individuals with SETBP1 haploinsufficiency disorder (SETBP1-HD) and related disorders. While SETBP1-HD is considered ultra-rare—with fewer than 300 known individuals worldwide—important scientific progress has been made since the first case was identified in 2011 and the SETBP1 Society was founded in 2017.

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

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First ever international SETBP1 conference brings together families, researchers, and supporting organizations

haley — Wed, 26 Feb 2025 15:00:00 +0000

First ever international SETBP1 conference brings together families, researchers, and supporting organizations

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.

Dr. Audrey Brumback from UT discussed key traits identified in SETBP1 knockout mice.

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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Looking back – SETBP1 Society & SETBP1-HD Timeline

haley — Wed, 08 Jan 2025 19:09:38 +0000

As we spring into 2025 excited for the research and discoveries to come, we look back into the history of SETBP1 Society and SETBP1 haploinsufficiency disorder. From 2011 to today, the last 13 years have laid the foundations of hope for the next scientific breakthrough in SETBP1-HD. Together, we’ve achieved so much. Take a look!

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Join us in Austin, TX for our Family Conference!

haley — Mon, 26 Aug 2024 16:21:41 +0000

The SETBP1 Family & Research Conference is THIS OCTOBER from Friday early evening on the 11th through Sunday lunch on the 13th in Austin, TX! Our Empowering Independence-themed conference provides you the opportunity to ask your burning questions from SETBP1 medical specialists, researchers and therapists, to hear about the latest SETBP1 research findings, to connect with other SETBP1 parents/caregivers in a breakout session or by the pool, and to let loose at the dinner and dance party!

Learn more

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

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

Scholarship Info

Thank you to our Conference Sponsors!

Learn more about being a Sponsor!

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Bite-Sized Breakthroughs – May 2, 2024

haley — Thu, 02 May 2024 21:07:34 +0000

SETBP1 Genetics: Bite-Sized Breakthroughs

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

Welcome to our 2nd “SETBP1 Genetics: Bite-sized Breakthrough”.

–This time, we are looking back at a breakthrough article published in the European Journal of Human Genetics in 2021 by Nadieh Jansen, MS, located at Radboud University Medical Center for our “SETBP1 Genetics: Bite-sized Breakthrough”… Before the publication of this work, the scientific and clinical field has not systematically evaluated the major features and presentation of SETBP1 haploinsufficiency disorder (SETBP1-HD).

Check out this short read by Jordan Whitlock HERE

Check out 1st SETBP1 Genetics: Bite-Sized Breakthrough at HERE

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2024 SETBP1 Family & Research Conference

haley — Wed, 06 Dec 2023 00:37:01 +0000

📣📣SAVE THE DATE!! 📝📝

The location and dates for the 2024 SETBP1 Family & Research Conference have been set! The in-person international gathering will be October 11th-13th, 2024 in Austin, TX USA! Can’t wait to see our SETBP1 families and researchers gather together again under one roof to connect, share and learn!

Learn more: bit.ly/setbp1-conference

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Accepting Letters of Interest (LOIs) for SETBP1 Haploinsufficiency Disorder Research

haley — Sat, 26 Aug 2023 20:38:05 +0000

SETBP1 Society is pleased to share the funding opportunity offered by the 2023 Million Dollar Bike Ride Grant Program sponsored by the University of Pennsylvania Orphan Disease Center! They are NOW ACCEPTING LETTERS of INTEREST to apply for one $88,740 SETBP1 Haploinsufficiency Disorder research grant. These funds were made possible by the amazing fundraising efforts of our SETBP1Strong Team. The purpose of this RFA is to promote understanding of underlying disease mechanisms and pre-clinical development of potential therapies and tools for SETBP1 haploinsufficiency disorder.

Letters of Interest (LOIs) are due by Friday, September 15, 2023 by 8pm (EST)!

SETBP1 Haploinsufficiency Disorder Grant Specifics: The purpose of this RFA is to promote understanding of underlying disease mechanisms and pre-clinical development of potential therapies and tools for SETBP1 haploinsufficiency disorder. One $88,740 grant available. Areas of interest include, but are not limited to:
-Identifying molecular pathways involved in this disease
-Investigating repurposing of existing FDA approved drugs as a treatment for SETBP1-HD
-Identifying novel drugs or therapies for SETBP1-HD
-Investigating language, cognitive, and attention clinical profiles through natural history studies to further delineate the SETBP1 disorder phenotype and develop diagnostic and/or predictive biomarkers for clinical trials with a preference for virtual administration with multi-language support

In addition, applicants are encouraged to collaborate with existing SETBP1 researchers and to leverage existing disease models (e.g. animal models at JAX, patient-derived cell models at SFARI biorepository, etc.) to assess therapeutic impact. This grant is made possible by Team SETBP1Strong and SETBP1 Society.

Want to learn more? Check out the 2023 MDBR Grant Program details!

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SETBP1 GivingTuesday is TODAY!!

haley — Tue, 29 Nov 2022 22:17:00 +0000

SETBP1 Society plans to work with our SETBP1 medical specialists to establish the first ever SETBP1 Multidisciplinary Clinic. The clinic will provide SETBP1 families coordinated care services to develop cohesive treatment plans. This GivingTuesday, we need to raise $25,000 to help establish this clinic.

Check out our progress so far!

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