CAD mutations and uridine-responsive epileptic encephalopathy
Abstract Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled from uridine. Exome sequencing […]
Massively targeted evaluation of therapeutic CRISPR off-targets in cells
Abstract Methods for sensitive and high-throughput evaluation of CRISPR RNA-guided nucleases (RGNs) off-targets (OTs) are essential for advancing RGN-based gene therapies. Here we report SURRO-seq for simultaneously evaluating thousands of therapeutic RGN OTs in cells. SURRO-seq captures RGN-induced indels in cells by pooled lentiviral OTs libraries and deep sequencing, an approach comparable and complementary to […]
The first human trial of CRISPR-based cell therapy clears safety concerns as new treatment for late-stage lung cancer
In a study recently published in Nature Medicine, Lu et al. examined the feasibility and safety of using CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)-engineered, patient-derived T cells to treat late-stage lung cancer.
CRISPR: Implications for materials science
The latest possibilities for editing DNA with pinpoint accuracy are transforming.
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase
Abstract Intellectual disability (ID) is a neurodevelopmental condition that affects ~1% of the world population. In total 5−10% of ID cases are due to variants in genes located on the X chromosome. Recently, variants in OGT have been shown to co-segregate with X-linked intellectual disability (XLID) in multiple families. OGT encodes O-GlcNAc transferase (OGT), an essential enzyme that catalyses […]