Ricki Lewis

Sequencing our genomes is a 21rst century phenomenon. Discrimination based on genetics dates back to the start of the eugenics movement in the 1880s. Will an effort to determine the sex chromosome constitutions of nearly 600,000 men whose DNA is being analyzed in the Million Veteran Program provide helpful health information – or highlight another possible source of genetic judgment?

Researchers at the University of Colorado Anschutz Medical Campus and collaborators across the US report the largest and most diverse study of men with extra X or Y chromosomes in the US. Their findings appear in the March 29, 2024 JAMA Network Open. The Million Veteran Program is a national effort considering how genes, lifestyle, military experiences, and environmental exposures affect health and wellness among veterans. It launched in 2011.

The Biology of Sex Chromosomes

Clues to combatting a devastating disease can come from identifying people who have gene variants – mutations – that protect them, by slowing the illness or lowering the risk that it develops in the first place. Understanding how they do this may inspire treatment strategies for the wider patient population.

Rare variants of three well-studied genes appear to delay inherited forms of Alzheimer's disease – by decades.

Gene #1: The Famous Case of Aliria from the Colombian Family

In 2019. researchers reported on a patient, Aliria Rosa Piedrahita de Villegas, who seemed to have fended off early-onset familial Alzheimer's thanks to a variant of a second, apparently protective gene. The report appeared in Nature Medicine.

Among the barrage of drug ads for cancer, diabetes, weight loss and more are those for Lume, a "doctor-developed whole body deodorant."

Lume (pronounced loom-ay) comes as a cream, lotion, stick, wipe, wash, and cleansing bar, to be smeared, rubbed, or wiped anywhere on the human epidermis. Invented to obliterate the distinctive odor of a human female's private parts, Lume has since broadened into a "whole body deodorant." For everyone.

Whatever the formulation, Lume lowers the skin's pH (making it more acidic), which kills the bacteria behind the stink. The products infiltrate the many folds and crevices of a vast human skinscape.

A Compelling Need

I was delighted to discover that the inspiration for Lume is a rare, recessive genetic disease, trimethylaminuria (TMAU), aka "fish odor syndrome."

To continue reading, go to DNA Science, where this post was first published. 

A new drug has entered the arsenal against Duchenne muscular dystrophy (DMD), a genetic disease that affects boys and is challenging to treat. Boys 6 years and older can take Duvystat, to slow the course of the illness. FDA classifies it as a "nonsteroidal treatment" – not a gene therapy, but it affects gene expression.

To continue reading, go to DNA Science, where this post first appeared.