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Target: Mutation

The US Food and Drug Administration has approved "the first therapy to treat an underlying cause of cystic fibrosis, a pill that targets a genetic mutation affecting a small minority of patients suffering from the life-threatening breathing disorder," The Wall Street Journal reports. Vertex Pharmaceuticals' Kalydeco targets G551D, a mutation in the cystic fibrosis transmembrane conductance regulator, or CFTR, gene. FDA approved the drug to treat the approximately 4 percent of cystic fibrosis patients who have the G551D mutation, WSJ reports, adding that Kalydeco "will be among the most expensive therapies on the market, costing $294,000 a year."

The Scan

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.