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.
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.
SAN FRANCISCO – Major genetic research efforts designed to encompass millions of people globally have been setting up their infrastructure in recent years to serve both researchers and patients. This work is being done by major national initiatives, such as All of Us in the U.S. and Genomics England in the U.K., as well as by health care systems such as Intermountain and Kaiser.
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.
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.
LONDON – Twenty years on from sequencing of the first draft of the human genome and the associated hype, 2019 was the year that the science of genomics truly began to make an impact in health care.
The leucine-repeat rich kinase 2 (Lrrk2) gets most of its attention in the context of Parkinson's disease (PD). Variants in Lrrk2 are a major cause of familial PD (though familial PD makes up only a small fraction of overall PD cases).
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.