LONDON – A vast new body of genomics research has identified thousands of rare genetic variants that are predicted to cause loss of function in protein coding genes, providing novel in vivo models of human gene inactivation.
LONDON – The U.K. is launching a £28 million (US$34.5 million) project to sequence the whole genome of every COVID-19 patient in the country treated in intensive care, with the aim of uncovering host genetic factors that lead some people to be more severely affected by the infection. The study will involve up to 20,000 people currently or previously treated in one of 170 intensive care units (ICUs), whose genomes will be compared to 15,000 people with a confirmed infection who had mild or moderate symptoms.
LONDON – The extent to which existing DNA databases fail to reflect human genetic diversity is laid bare in the most geographically comprehensive sequencing initiative to date. The study applied the latest sequencing techniques to 929 genomes from 54 diverse populations around the world.
Beyond every binary is a more complex reality. And so it is with driver and passenger mutations. The separation of tumor mutations into drivers and passengers underpins much progress in the development of targeted therapies. By looking at passenger mutations more carefully, though, researchers at Yale University have shown that passenger mutations, too, played a role in how tumors progressed.
LONDON – The genomes of 38 different tumor types and the 47 million mutations that fostered their growth are revealed in unprecedented detail in 23 studies published in Nature and other journals on Feb. 6, 2020.
DUBLIN – “Welcome to the conversation,” Abbvie Inc.’s head of genomic research, Howard Jacob, an early pioneer of genomics-driven medicine, told delegates during a keynote address at the Genomics Summit 2020 event Jan. 23. Ireland is very much a latecomer to that conversation and it has yet, as a country, to figure out what the shape of its contribution to the genomic era of medicine is going to be.
Genome sequencing is enabling new insights into the genetic aspects of health and disease that have touched just about every aspect in biomedicine. It is also, like the “skin”-colored crayons of yore, disproportionately focused on the Caucasian segment of the population. And that is a loss for everyone.
Sexual dimorphism in gene expression is widespread across chromosomes, and is partially conserved across species from mice to humans, the first study to investigate such differences both across species and across tissues has found.
In what may be the smallest double-blind, placebo-controlled clinical trials on record, researchers have shown that treating two individuals with drugs aimed at raising brain levels of glycine improved their psychotic symptoms.