genetics, genetics & genomics, disease & medicine

Two copies of the APOE4 variant, which confers a higher risk of dementia, doubles the risk of severe symptoms as a result of infection with SARS-CoV-2, according to a study.

The accumulation of zombie-like cells seems to accelerate aging and promote aging-related disease. Researchers are trying to figure out how.

With more than 6,000 cases of the 2019-nCoV virus confirmed, researchers are hoping that studying the pathogen in the lab will help stop the outbreak.

The modification of three babies’ genes by He Jiankui drew widespread criticism from scientists.

Trophoblasts, collected from the mother during a blood draw, can determine fetal genetic abnormalities currently diagnosed through amniocentesis or chorionic villi sampling.

The authors have requested a retraction of a paper that found people with the CCR5 Δ32 variant are more likely to die sooner.

Despite a solid understanding of the biological basis of fragile X syndrome, researchers have struggled to develop effective treatments.

Variation in the number of CGG repeats in the FMR1 gene at the bottom of the X chromosome can lead to increased levels of mRNA or decreased levels of protein—both conditions that cause disease.

Some variants implicated in the disease are also linked to other psychiatric disorders.

At $2 million for a single dose, Novartis’s Zolgensma is the most expensive medicine to date, but still less expensive over a lifetime than another approved drug for the rare genetic disease.

Researchers can now track the expansion of a resistance mechanism that allows the malaria vector Anopholes funestus to detoxify a key insecticide used on bed nets.

Certain populations have been historically underrepresented in genome sequencing studies, but the NIH, private clinics, and 23andMe and other companies are trying to fix that.

The large-scale experiments aim to test how the technology would fare in the wild, if deployed to knock down populations of the pests.

Deep-learning algorithms could help doctors narrow in on the causes of certain medical conditions, say researchers.

A trial called BabySeq, in which researchers performed genomic sequencing on 159 newborns, identified children susceptible to diseases that regular screening doesn’t look for.

He Jiankui says he has successfully used CRISPR-Cas9 to tweak the genes of twins born earlier this month. Some independent experts are dubious.

Methylation patterns at so-called metastable epialleles in the genome stamp a memory into each of our cells.

One variant limited the brain’s ability to use glucose.

The Germany-based study will test an ex vivo genome-editing therapy for the inherited blood disorder β-thalassemia.

Researchers boosted levels of the dystrophin protein to nearly normal levels in a canine model of the disease.