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.
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