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 titled Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling provides insight into the use CRISPR/Cas9 genome editing technology in pluripotent stem cells to uncover the molecular underpinnings of specific variants in SETBP1-HD.

Check out this short read by our Scientific Coordinator, Jordan Whitlock HERE

Check out our other SETBP1 Genetics: Bite-Sized Breakthroughs HERE

Read the full publication HERE