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.
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.
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.
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).