The association between parental and offspring body mass index may be due to genetic confounding
1. The association between parental body mass index (BMI) and offspring BMI from age 6 months to 8 years may...
Genetics
Reports of high-impact genetics studies by medical professionals
Ex vivo gene therapy for cystinosis had acceptable safety and improved disease biomarkers
1. In this phase 1–2 open-label study, autologous lentiviral hematopoietic stem-cell gene therapy for cystinosis was associated with sustained engraftment...
One in three people with cystic fibrosis may experience nephrolithiasis during their life
1. Nearly one in three people with cystic fibrosis experienced nephrolithiasis during their lifetime. 2. The degree of exocrine pancreatic...
Midlife hearing loss is associated with smaller brain volumes and faster decline in executive function
1. In this cohort study, midlife hearing loss was linked with smaller brain volumes, faster decline in executive function, and...
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...
