BeHeard Award 2018: Diseases of Glycosylation, Arginine Mutagenesis, & Neural Development
Type
Blog Post
...proteins that cause rare diseases. They now plan to test a large number of other disease-linked Arg-mutant...Engineering the human disease alleles into cells for testing in the lab will be greatly facilitated by CRISPR...Baldwin, Enoch, et al. "Generation of ligand binding sites in T4 lysozyme by deficiency-creating substitutions...function. They will then mutagenize the NFIX gene and test whether variants of unknown significance (VUSs) ...) that are frequently found in genetic testing for syndromes that include developmental delay, result ...dominant negative NFIX phenotypes.
Developing a rapid test for the functional activity of VUSs will enable ...