Discover and read the best of Twitter Threads about #22q11ds
Most recents (3)
(1/10) Very grateful to see our paper published in @PsychMedJournal. Let me take you on a brief tour of this family study in individuals with #22q11DS: 
2/10 While we are able to describe risk of neuropsychiatric outcomes at the group level, for individuals with pathogenic variants, our ability regarding individualized outcome prediction lags behind, as does our ability to identify mechanisms and additional factors of impact.
3/10 22q11DS, common among such rare genetic variants, is associated with intellectual disability(~45%) & schizophrenia(~25%). We combined within-family & genetics-first approaches to disentangle effects on key neuropsychiatric traits of 22q11DS; schizophrenia; & parental scores.
1/ #22q11DS is a rare genetic disorder. Due to the missing of a small piece of chromosome 22 (="deletion"), it can lead to a range of physical issues, most often affecting the heart, palate and immune system.
It can also impact the brain. How?
images.app.goo.gl/oKK5xqaVFDhVkC…
It can also impact the brain. How?
images.app.goo.gl/oKK5xqaVFDhVkC…
2/ The missing bit of chr22 contains amongst others instructions for the developing brain.
Imagine you are putting together an IKEA cabinet, but part of one page of the manual is missing.
images.app.goo.gl/g9Skks5aWbTimE…
Imagine you are putting together an IKEA cabinet, but part of one page of the manual is missing.
images.app.goo.gl/g9Skks5aWbTimE…
3/ You'd be able to put it together, but likely with some difficulty. Maybe one of the doors doesn't close tightly, or a shelf is wobbly.
Likewise, 22q11DS can affect the development of the brain. This has consequences for the person with this genetic variant.
Likewise, 22q11DS can affect the development of the brain. This has consequences for the person with this genetic variant.
1/X rdcu.be/b992F
We are very excited about our study appearing today in @NatureMedicine. It is a genotype-phenotype study in the largest sample of individuals with #22q11.2 deletion syndrome reported to date.
Let us give you a quick 12-step tour of our findings.
We are very excited about our study appearing today in @NatureMedicine. It is a genotype-phenotype study in the largest sample of individuals with #22q11.2 deletion syndrome reported to date.
Let us give you a quick 12-step tour of our findings.
2/X #22q11DS is a #RareDisease. In addition to a range of physical symptoms, patients are liable to neuropsychiatric conditions, including #schizophrenia (SZ) and #intellectualdisability (ID). However, manifestations are highly variable. Image: positiveexposure.org
3/X With the International 22q11 Brain and Behavior Consortium (IBBC), we examined the role of common genetic variation, summarized in a polygenic score (PS) in the context of the 22q11.2 deletion. @NIMHgov @WiringTheBrain @EricTopol @22qFoundation @UCLAHealth
