An overview of Cardiff University's research on 22q11.2 deletion and duplication, co written by Dr Sam Chawner and Ellie Dorrans.
Download: Overview of Research 22q11 Cardiff University
Research from Cardiff University
New research paper was published by the team at Cardiff University on Autism diagnosis relating to those with 22q11.
Download: 1Chawner-2021-A-genetics-first-approach-to-dissec.pdf
News from Toronto
Jacob Vorstman's group published work using the 22q11.2 consortium (which includes data on British 22q families) dataset in Nature Medicine. They found that genetic changes outside the 22q11.2 deletion predict an individual with 22q11.2 Deletion Syndrome's chance of developing schizophrenia, and predicts their IQ level. This work begins to explain why behavioural outcomes are so different within the syndrome.
Below is the press release from Vorstman's group that explains the findings:
https://www.sickkids.ca/AboutSickKids/Newsroom/Past-News/2020/DNA-deletion-syndrome.html