A new finding has set the Alzheimer’s research world abuzz: a 73- year old woman with extremely high risk for AD, yet who doesn’t have it
We have found whole gene humanization can create a platform for highly translatable results in a model organism. Currently there is a big need for functional studies of Variants of Uncertain Significance (VUS).
We created over 90 point mutations in the STXBP1 gene via CRISPR. A map of these point mutations can be seen above. Clinical variants were selected from the ClinVar database, literature, the Gnomad database, clinical researchers, and the STXBP1 foundation.
Knock-ins are hard, for a long time people even said they were impossible, but we are nearing an 80% success rate for CRISPR knock-ins in zebrafish so we want to share with you what we believe to be the 11 steps necessary to have a successful knock-in project.
With the advent of targeted nucleases like zinc-finger nucleases (ZFNs), TALE nucleases (TALENs), and clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated proteins (Cas), zebrafish researchers were able to begin interrogating gene function and regions of interest with a precision that was previously out of reach. With these innovations, researchers could not only disrupt …
We use the zebrafish (Danio rerio) as an in vivo model to measure the functional effects of patient-derived genetic variation. In this way, human genetic variants identified in the clinic are quantitatively and qualitatively connected to model animal phenotypes. As a proof of concept study, we used precision gene editing and transient knockdown approaches targeting stxbp1a – the …