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 […]
SETBP1 Genetics: Bite-Sized Breakthroughs Breaking down new breakthroughs in SETBP1 research in an easy to digest way Welcome to our first โSETBP1 Genetics: Bite-sized Breakthroughโ, featuring a review article published by Dr. Angela Morgan at Murdoch Childrenโs Research Institute (MCRI) in Melbourne, VIC, Australia! The article is titled “Genetic architecture of childhood speech disorder: a […]
๐ฃ๐ฃSAVE THE DATE!! ๐๐ The location and dates for the 2024 SETBP1 Family & Research Conference have been set! The in-person international gathering will be October 11th-13th, 2024 in Austin, TX USA! Can’t wait to see our SETBP1 families and researchers gather together again under one roof to connect, share and learn! Learn more: bit.ly/setbp1-conference
New SETBP1 Behaviors and Characteristics Study & Prior SCoReS Study Results New SETBP1 Behaviors and Characteristics Study Learn about a new SETBP1 research study! This study will focus on learning more about the unique characteristics and behaviors of our children and young adults with SETBP1 haploinsufficiency disorder and related disorders. The webinar provides information about […]
SETBP1 Society is pleased to share the funding opportunity offered by the 2023 Million Dollar Bike Ride Grant Program sponsored by the University of Pennsylvania Orphan Disease Center! They are NOW ACCEPTING LETTERS of INTEREST to apply for one $88,740 SETBP1 Haploinsufficiency Disorder research grant. These funds were made possible by the amazing fundraising efforts […]
