Browsing: Genetic

Difficulties of sharing information about genetic risks, for medical purposes, with family members are well known to patients with rare genetic diseases and healthcare professionals. To understand the mechanisms underlying the difficulties associated with the family disclosure of genetic risk (FDGR) process, an online questionnaire survey was designed in collaboration with French patient associations, healthcare…

Two disorders with big names—trichotillomania (repeated hair-pulling) and excoriation disorder (repeated skin-picking)—were the focus of a recent Yale study looking at potential genetic causes. The two disorders are part of a group called body-focused repetitive behaviors, or BFRBs

Researchers in Australia have developed a gene therapy that could restore heart function in children born with mutations that cause cardiomyopathy. A study published inNature Cardiovascular Researchsuggests this approach could potentially address more than 25% of cardiomyopathies that have a genetic basis. 

Genome-wide association studies using large, population-based samples of unrelated individuals have discovered thousands of genetic associations with health and disease1. These studies can help explain genetic and environmental risks. However, increasing evidence suggests that population-based estimates, while precise, can also reflect confounding that affects their use and interpretation. This confounding can be overcome using data…

Shannon Knight, a brain and cognitive sciences PhD candidate and McGovern Institute researcher, focuses on developing a novel gene therapy. Stefanie Koperniak|Office of Graduate Education Publication Date: August 18, 2026

Exercise addiction (EA) is a complex behavioral phenotype characterized by a loss of control over exercise despite adverse physical, psychological, and social consequences. Although its psychological and performance-related aspects have been widely studied, its underlying etiology remains largely unclear, leading to increased interest in potential genetic vulnerability. Therefore, an exploratory pilot study investigated genetic variants…

The Inbetweeners star James Buckley has revealed that he’s been forced to give up alcohol and make major lifestyle changes after being diagnosed with a genetic disease

CNBC Cures is proudly under AstraZeneca Rare Disease, whose support enables our journalism to elevate stories that advance research, innovation and patient care in rare diseases

Scientists have uncovered new genetic risk factors for a long-term chronic pain condition in the largest study of its kind

A Florida Department of Health award will support Miller School researchers studying whether loss of the Y chromosome could help identify men at increased risk for Alzheimer’s disease before symptoms appear