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 โSETBP1 Genetics: Bite-sized Breakthroughโ. 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 โSETBP1 Genetics: Bite-sized Breakthroughโ. 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 […]
๐ ๐บ๐๐ฃ๐๐๐๐๐ข๐๐ ๐๐๐ฆ, 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. ๐ How will YOU Give Hope and Lend a Hand this ๐บ๐๐ฃ๐๐๐๐๐ข๐๐ ๐๐๐ฆ? Here are some ways you can help: 1๏ธโฃ 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 โSETBP1 Genetics: Bite-sized Breakthroughโ. –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 […]
Our 2024 SETBP1 Community Survey is available for SETBP1 families to complete in English, Dutch, French, German, Italian, Portuguese, and Spanish. We want to hear from you! Please take about 15 minutes to complete this short survey There is an additional section included for SETBP1 parents and caregivers of young adults as we have very […]
