Chloe Williams, Spectrum | Aug 19, 2022 | 5 min read
Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.
A new study links a variant of the apolipoprotein E gene called APOE ε4 to better memory in older age, even in the presence of amyloid plaques—a possible explanation for the variant’s persistence despite its association with an increased risk of Alzheimer’s disease.
A mutant protein called Siglec-XII may promote carcinoma progression in humans, but inactivation of its gene seems to avoid the problem, according to a study.
The physiological demands of that long neck get support from a gene involved in strengthening bones and blood vessels, researchers find after inserting the sequence in mice.
Gamze Gursoy and Mark Gerstein of Yale Medical School have developed a strategy for stripping identifying variants from functional genomic data, balancing privacy with utility.
“Short sleeper” mice engineered to have the same sequence in the gene sleep less but show the same performance on memory tests as animals that sleep a normal amount.
He developed an MRI-based map of the human cortex, discovered genetic risk factors for neurodegenerative diseases, and wrote about his struggles with ALS.
Many patients with genetic variations linked to cardiac disorders do not exhibit any symptoms, raising concerns about the validity of incidental findings of genetic tests.