New SETBP1 Parent Communication & Speech Therapy Survey — now available in 8 languages! 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 & […]
SETBP1 Genetics: Bite-Sized Breakthroughs — Motor Speech Disorders This latest study—the largest of its kind—found a strong genetic link between motor speech disorders and SETBP1 We are excited to share the latest installment in our SETBP1 Genetics: Bite-Sized Breakthroughs series — where we translate SETBP1-related scientific publications into clear, accessible summaries for our community. The […]
As the year comes to a close, we wanted to take a moment to highlight the current breadth and depth of ongoing research efforts for SETBP1-HD in relation to model development. In May 2025, we released our Research Strategy outlining where we are as a Society and where we plan to focus in the years […]
2025 SETBP1 Community Survey Results Now Available We’re excited to share the results of our 2025 SETBP1 Community Survey! 💙 This is the 2nd year SETBP1 Society invites parents, caregivers, and families around the world to share their experiences and insights through our community survey. These responses help us better understand how SETBP1 haploinsufficiency disorder […]
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 […]
Join the SETBP1Strong Team in the 2025 Million Dollar Bike Ride! Registration is now OPEN! 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 […]
First ever international SETBP1 conference brings together families, researchers, and supporting organizations 2/26/25, Kelsey Bennett
SETBP1 Genetics: Bite-Sized Breakthroughs Breaking down new breakthroughs in SETBP1 research in an easy to digest way Welcome to our 5th “SETBP1 Genetics: Bite-sized Breakthrough”. This time, we are looking at a breakthrough article published in Molecular Autism in 2024 by Dr Nicole Shaw and Dr Vanessa Fear from Telethon Kids in Australia. This publication […]
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! […]
SETBP1 Genetics: Bite-Sized Breakthroughs 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 […]
