Genomics England researchers have published guidelines to aid in the interpretation of non-coding regions to improve the diagnostic rate of whole-genome sequencing-based rare disease genetic testing. Most of the existing variant interpretation guidelines were about the interpretation of the coding region of the genome. The authors recommend using the guidelines for the WGS era alongside existing guidelines.
Genetic diagnostics company Invitae will lay off more than 1,000 employees to cut costs and improve profitability. Underutilized offices and laboratories will be consolidated and the genetic testing product portfolio will be focused on higher-margin, higher-growth opportunities including oncology, women's health, rare diseases, and pharmacogenomics.
The genetic variant called RNF213 p.R4810K is found in about 1 in 50 East Asian descendants and in 90% of Moyamoya disease patients. In a recent study, patients with this variant were found to have an increased risk of reocclusion after endovascular mechanical thrombectomy (EVT) treatment.
The European Commission has approved the market sale of Upstaza, an aromatic L-amino acid decarboxylase (AADC) deficiency treatment from PTC Therapeutics. Upstaza is the first AADC disease-modifying treatment and the first marketed gene therapy administered directly into the brain.