Principles of CRISPR-Cas13 mismatch intolerance enable selective silencing of point-mutated oncogenic RNA with single-base precision.

Single-nucleotide variants (SNVs) are extremely prevalent in human cancers, although most of these remain clinically unactionable. The programmable RNA nuclease CRISPR-Cas13 has been deployed to specifically target oncogenic RNAs. However, silencing oncogenic SNVs with single-base precision remains extremely challenging due to the intrinsic mismatch tolerance of Cas13.

Metabolic Bone Disease: An Overview.

Metabolic bone diseases are a heterogenous group of conditions that all result in aberrant bone mineral homeostasis with resulting skeletal disease. The underlying causes are variable, ranging from nutritional deficiencies to pathogenic variants in skeletal genes. To properly diagnose and treat these conditions, a clinician needs to understand bone metabolism as well as recognize the signs of disease in a patient.

Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome.

Noonan Syndrome (NS) is associated with an increased risk of low-grade central nervous system tumours in children but only very rarely associated with high-grade gliomas. Here we describe the first reported case of a spinal high-grade astrocytoma with piloid features (HGAP) in a child with NS. This case was a diagnostic and treatment dilemma, prior to whole-genome germline and tumour sequencing, tumour transcriptome sequencing and DNA methylation analysis.