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Staying Well

Not everybody with a genetic variant linked to a disease comes down with that condition, something that Resilience Project researchers are beginning to study.

Stephen Friend and his colleagues are looking for volunteers to donate their DNA so that they can track down people who had a healthy childhood but who harbor variants that should've made them sick.

"We anticipate that once we identify these 'resilient' individuals, further study will help reveal key insights into the biology of these diseases, and how they have been protected via genetic or environmental factors to avoid getting ill," the project website says.

Juhan Sonin, a volunteer from Boston, tells the New Scientist that he's participating in the study to help bring about a time when disease can be treated before people know they are sick.

"[B]y diving deeper into genetics in this way, we stand a chance of fighting disease before we even have symptoms," Sonin says.

When the New Scientist asks how he thinks he'd feel if he turns out to have one of those disease-causing mutations, but also another factor that prevented him from getting ill, Sonin says, "It would be simultaneously hair-raising and fabulous. While I would want to know all the details of how that could impact my children, the promise of being part of unraveling and solving a serious disease is splendid."

The Scan

Long COVID-19 Susceptibility Clues Contained in Blood Plasma Proteome

A longitudinal study in eBioMedicine found weeks-long blood plasma proteome shifts after SARS-CoV-2 infection, along with proteomic signatures that appeared to coincide with long Covid risk.

Tibetan Study Finds Adaptive Variant Influencing Skin Pigmentation

With a combination of phenotyping and genetic data, researchers document at PNAS a Tibetan-enriched enhancer variant influencing melanin synthesis and ultraviolet light response.

Domestication Linked to Nervous System Genes in Inbred Mouse Strains

Researchers highlighted more than 300 positively selected genes in domesticated mice, including genes linked to nervous system function or behavior in Genome Biology.

ALS Genetic Testing May Be Informative Across Age Ranges, Study Finds

Researchers in the journal Brain identified clinically actionable variants in a significant subset of older ALS patients, prompting them to point to the potential benefits of broader test use.