Hearing Loss, Brain Structure, Cognition, and Dementia Risk in the Framingham Heart Study
1. In this cohort study, midlife hearing loss was linked with smaller brain volumes, faster decline in executive function, and...
Genetics
Reports of high-impact genetics studies by medical professionals
A new machine-learning model achieved higher diagnostic accuracy on Mendelian disorders than existing bioinformatic tools
1. AI-MARRVEL (AIM), a new artificial intelligence (AI) system, was trained using samples diagnosed by experts from the American Board...
Protein-truncating variants in apolipoprotein B and PCSK9 genes associated with lower exposure to atherogenic LDL cholesterol and risk of coronary heart disease
1. In this genetic association study, among 209 537 participants, a protein-truncating variant (PTV) was identified in 0.4% of individuals,...
![Reduced neuronal BRCA1 associated with decreased DNA repair in Alzheimer’s disease [PreClinical]](https://www.2minutemedicine.com/wp-content/uploads/2015/12/DNA_Furchen_edited-350x250.png)
Differences in cancer implications for clinical care among CHEK2 variants
1. Some CHEK2 alleles were shown to have a high-risk association of breast cancer compared to other alleles that were...
Rare genetic variants may be enriched in patients with high-risk spontaneous coronary artery dissection
1. This prospective case-control study demonstrated that approximately 20% of patients with spontaneous coronary artery dissection with high-risk features had...
Children with inborn errors of metabolism have increased risk of long-term mortality
1. Compared to unaffected children, children with inborn errors of metabolism have significantly elevated risk of mortality (21.2 times risk) before...
Newborn screening for cystic fibrosis improves nutritional outcomes
1. In this retrospective study, newborn screening for cystic fibrosis in the United States lead to improve nutritional status with higher...
Timing of developmental milestones varies greatly in children with autism
1. Median delays in achieving key developmental milestones varied between 0.7 and 19.7 months for children with autism compared to...
Combined genetic testing of cardiomyopathies and arrhythmias increases diagnostic yield to inform patient management
1. Comprehensive genetic testing for cardiomyopathy and arrhythmia diagnoses improved the ability to detect underlying conditions which may have otherwise...
Rapid genotyping for variant associated with aminoglycoside-induced ototoxicity is feasible in acute neonatal setting
1. In a prospective implementation trial, more than 400 infants were tested for the MT-RNR1 m.1555A>G variant using a point-of-care...
