Tag: Genetics
ENDO: Crinecerfont Aids Patients With Congenital Adrenal Hyperplasia
Crinecerfont results in greater decrease from baseline in mean daily glucocorticoid dose among patients with CAH
Individuals With BAP1 Have High Rate of Nail Abnormalities
Almost all patients with nail involvement had polydactylous involvement with onychopapillomas
Male, Female V1421 Carriers Face Similar Risk for Heart Failure Hospitalization
Carriers face similar and substantial risk for heart failure hospitalization, mainly with reduced ejection fraction
Novel Genetic Loci ID’d for Hypertension in European Ancestry
Clinically meaningful differences in BP and increased HTN risk seen in top versus bottom decile of polygenic risk scores
GWAS Identifies 108 Independent Risk Loci for Kidney Cancer
Validated polygenic risk score generated, with area under the curve of 0.65 among European ancestry individuals
Recombinant ADAMTS13 Effective, Safe in Congenital Thrombotic Thrombocytopenic Purpura
Treatment had few adverse events and increased ADAMTS13 activity versus standard therapy
Healthy Lifestyle Can Overcome Genetic Predisposition to Premature Death
Optimal healthy lifestyles include never smoking, regular physical activity, adequate sleep duration, and a healthy diet
Patient Gets First-Ever Pig Kidney Transplant Plus Heart Pump
New Prostate Cancer Urine Test Has High Diagnostic Accuracy
Higher AUROC seen for 18-gene MPS2 model compared with current guideline-endorsed biomarkers
Heritability for Autism Spectrum Disorder Varies for Males and Females
Difference in heritability estimated at 11.3 percent, with higher heritability for males than females
