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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

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.