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.

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.

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.

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.

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.

The post Faces of SETBP1 appeared first on SETBP1 Society.

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

Welcome to our first “SETBP1 Genetics: Bite-sized Breakthrough”, featuring a review article published by Dr. Angela Morgan at Murdoch Children’s Research Institute (MCRI) in Melbourne, VIC, Australia! The article is titled “Genetic architecture of childhood speech disorder: a review”. This breakthrough reveals findings about Childhood Apraxia Speech (CAS) disorder, its link to genetics and more information about SETBP1.

Check out this short read by Jordan Whitlock HERE

The post Bite-Sized Breakthroughs – February 28, 2024 appeared first on SETBP1 Society.

Join us tomorrow for our RARE-X SETBP1 Data Collection Program launch!

Saturday 5 March at 1pm ET / 10am PT
Jointly hosted by SETBP1 Society and RARE-X

We look forward to sharing this exciting new step in our efforts to elevate the patient’s voice!!