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 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