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.

The post Looking back – SETBP1 Society & SETBP1-HD Timeline appeared first on SETBP1 Society.

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

Welcome to our 4th “SETBP1 Genetics: Bite-sized Breakthrough”.

This time, we are looking at a breakthrough article published in Clinical Genetics in 2024 by Haley O Oyler from SETBP1 Society and an esteemed team of medical and professional colleagues. This publication titled SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study provides detailed results from the SETBP1-HD and related disorders registry hosted by Simons Searchlight. This is the first publication to make this information available not only to the SETBP1 community, but also, for the medical and broader community to view. This Breakthrough includes an added bonus about the story behind the publication.

Here is an excerpt from this Bite-Size Breakthrough: ” The first step on the path to identifying targeted treatments in any disorder, especially rare ones, is the establishment of a well characterized presentation of a disorder. For many groups, this begins with a natural history and patient registry. Both of these were prioritized early on in the formation of the SETBP1 Society. This paper details the first in-depth phenotype study for both SETBP1 haploinsufficiency disorder (SETBP1-HD) and SETBP1-related disorders (SETBP1-RD).”

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

Check out our other SETBP1 Genetics: Bite-Sized Breakthrough at HERE

The post Bite-Sized Breakthroughs – December 18, 2024 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.

Mice share more than 95% of our human DNA, meaning we are affected very similarly by disease. For over 90 years, The Jackson Laboratory has utilized this understanding to refine personalized medicine throughout the world and across a spectrum of diseases, now including SETBP1 disorder.

Austin, TX — November 23, 2020 — The SETBP1 Society began working closely with Cat Lutz, Ph.D. and Aamir Zuberi, Ph.D. of the Rare and Orphan Disease Center at The Jackson Laboratory (JAX), a nonprofit biomedical research institution, in 2018 to better understand how a mouse model could positively impact continued research and understanding of SETBP1 disorder.

This rare, monogenetic neurodevelopmental disorder causes the body to produce an insufficient amount of SETBP1 protein. In most instances, the variations in the SETBP1 gene are spontaneous and the families do not have a history of the disorder. The most common symptoms affecting those living with SETBP1 disorder are speech delay or inability to speak, intellectual disability, autistic traits or autism spectrum disorder, hypotonia, epilepsy, learning disabilities, and attention issues.

JAX’s Rare and Orphan Disease Center works with foundations like the SETBP1 Society to generate custom mouse models with clinical mutations to treat and cure rare and orphan diseases. Currently, the Center has worked in partnership with over 30 different rare disease foundations on mouse model development and has created models that provide greater understanding of the mechanisms of diseases such as Spinal Muscular Atrophy, Friedreich’s Ataxia, Rett Syndrome and ALS. Several alternate treatment options are being considered or developed as a result.

Over the last two years, JAX has successfully generated two model mice for SETBP1 research: a conditional knockout model (cKO) and an indel model. The cKO allele is modified from a previous allele generated by the global Knockout Mouse Programme (KOMP). The indel allele was generated using CRISPR/Cas9 technology.

“Ultimately, I think the models that we’ve generated are going to be really useful in getting a good handle on what SETBP1 does. The conditional knockout model is going to be a great way to evaluate not only the importance of SETBP1 in the brain, but how it works in different parts of the brain,” shared Zuberi, lead technology and resource development scientist at JAX. “Everything that we do leads us to a possible new direction that we can take. Generating a mouse model is the beginning of the process toward a therapy.”

Though it may take over a year to fully establish a new mouse model, once the mice are verified as having the intended disease or disorder, JAX then makes them available to interested researchers globally. This is a pivotal point in the development of treatments, as these researchers need effective tools to study the disease, and in the case of SETBP1 disorder, a necessary tool is the mouse model.

“A mouse model takes a rare disease and makes it common. We can develop a mouse model that our studies show accurately reflects the array of symptoms and phenotypes found in a clinical population, and now anyone can order that mouse strain anywhere in the world… any Ph.D. student, any postdoctoral associate, any researcher globally,” explained Zuberi. “By making that specific allele of a rare disease really common, we’ve now invited a huge community in to try different ways to fix it.”

As a direct result of the efforts of the Rare and Orphan Disease Center at JAX, the two model mice are now in the hands of a researcher at Baylor University in preliminary stages of research.

Haley Oyler, President of SETBP1 Society, said that the progress made toward researching this disorder simply would not have been possible without JAX. “The researchers at JAX took on the challenge and helped us shape our vision for the mouse models needed by intentionally consulting with our organization to develop the SETBP1 mouse models. We are confident that JAX is committed to our SETBP1 community and to the many other rare disorder communities they support! They are providing researchers the tools they need to answer the hard questions. Our partnership with JAX continues to bring us closer to a treatment to improve the lives of individuals living with SETBP1 disorder.”

For more information, press only:

Kelsey Bennett
402-619-8695
info@setbp1.org

For more information about the SETBP1 Society: https://www.setbp1.org

For more information about the Rare and Orphan Disease Center at the Jackson Laboratory:
https://www.jax.org/research-and-faculty/research-centers/rare-and-orphan-disease-center

The post PRESS RELEASE – The Jackson Laboratory Creates Two Models for SETBP1 Research appeared first on SETBP1 Society.

Families from across the globe who have been diagnosed with a very rare neurodevelopmental disorder, SETBP1 disorder, increase total funds raised by 25% for UPenn’s Million Dollar Bike Ride.

Austin, TX— October 5, 2020 — In June, non-profit organizations from around the country expected to take Philadelphia streets by storm to participate in the 7th Annual Million Dollar Bike Ride hosted by the UPenn Orphan Disease Center. The fundraiser brings together 30+ rare disease teams, each representing a specific rare disease. The money raised by each team funds a research grant to study that specific disease. After the event, grant applications are opened to the international scientific community — scientists from around the world are eligible to apply.

Due to the impact of the rising cases of coronavirus here in the US, it was decided that the ride would be done virtually. While this decision may not have been easy, it was imperative.

“This is already a vulnerable population and we could not put them at risk. We knew that it was not an option to cancel because these families, patients, and advocates were already working tirelessly to raise money and awareness for their causes. We were not going to be another obstacle toward progress for them,” said Samantha Charleston, Director of Programs and Community Engagement for the Orphan Disease Center at the University of Pennsylvania. “As researchers and scientists, these patients and families are at the forefront of every effort we make. Science does not happen without our patient community. They are the crucial players in everything that we do. Our work starts and ends with them.”

In making the tough decision to have the Million Dollar Bike Ride fundraiser be virtual, it allowed the 80 SETBP1 families from 21 different countries around the world to not only donate, but the opportunity to participate in the event on behalf of the SETBP1 Society as well. This resulted in $80,746 in total funds being raised for SETBP1 disorder research, which is more than a 25% increase over their 2019 results.

“The need to fundraise and raise awareness of rare disorders does not stand still during a pandemic. We still move forward and take the steps necessary to advance science and answer the question – how can we improve the lives of those living with neurodevelopmental disorders, including SETBP1 disorder?” said Haley Oyler, President of the SETBP1 Society. “Our mission remains a top priority for our community.”

     Kelsey Bennett
     402-619-8695
     info@setbp1.org

For more information about the SETBP1 Society:
     https://www.setbp1.org
For more information on the University of Pennsylvania’s Million Dollar Bike Ride:
     https://www.milliondollarbikeride.org/
     https://www.setbp1.org/mdbr/

The post PRESS RELEASE – Non-profit for SETBP1 Disorder Exceeds Fundraising Goal during COVID-19 appeared first on SETBP1 Society.