A new statistical tool developed by researchers at the University of Chicago improves the ability to find genetic variants that cause disease. The tool, described in a new paper published January 26, 2024, in Nature Genetics, combines data from genome-wide association studies (GWAS) and predictions of genetic expression to limit the number of false positives and more accurately identify causal genes and variants for a disease.

GWAS is a commonly used approach to identify genes associated with a range of human traits, including most common diseases. Researchers compare genome sequences of a large group of people with a specific disease, for example, with another set of sequences from healthy individuals. The differences identified in the disease group could point to genetic variants that increase risk for that disease and warrant further study.

Most human diseases are not caused by a single genetic variation, however. Instead, they are the result of a complex interaction of multiple genes, environmental factors, and host of other variables. As a result, GWAS often identifies many variants across many regions in the genome that are associated with a disease.

His father’s voice, the sounds of passing cars and scissors clipping his hair: An 11-year-old boy is hearing for the first time in his life after receiving a breakthrough gene therapy.

The Children’s Hospital of Philadelphia (CHOP) which carried out the treatment – a first in the United States – said in a statement Tuesday the milestone represents hope for patients around the world with hearing loss caused by genetic mutations.

Aissam Dam was born “profoundly deaf” because of a highly rare abnormality in a single gene.

A review discusses the current state of CRISPR-mediated genetic manipulation in human cells, animals, and plants and considers its future potential.

Biomedical engineers at Duke University have demonstrated that one of the most dangerous mutations found in skin cancers might moonlight as a pathway to mending a broken heart.

The genetic mutation in the protein BRAF, a part of the MAPK signaling pathway that can promote cell division, is one of the most common and most aggressive found in melanoma patients. In a new study, researchers show that introducing this mutation to rat heart tissue grown in a laboratory can induce growth.

Repairing cardiac muscle after a heart attack is the “holy grail” of heart research, complicated by the fact that heart tissue does not regenerate on its own. One potential strategy would be to persuade heart muscle cells to divide by safely delivering a therapeutic gene to patients and fully controlling its activity in the heart.