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 […]
💙 𝐺𝑖𝑣𝑖𝑛𝑔𝑇𝑢𝑒𝑠𝑑𝑎𝑦, the global celebration of generosity and giving, is THIS TUESDAY, December 3rd! This inspiring movement highlights the causes that uplift our families, friends, and loved ones. 💙 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 […]
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 […]
Potential SETBP1 Research Avenues using RNA-sequencing Data Haley Oyler, Erin Otness, Jordan Whitlock The flowchart above is a comprehensive guide to potential avenues of research using publicly available RNA-sequencing (RNA-seq) data. It outlines the major approaches (depicted in purple) and the downstream analysis methods or topics that could be investigated (in green). Additionally, it includes […]
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 […]
