Genetics

Reports of high-impact genetics studies by medical professionals

Detection of pathogenic genetic variants in early-onset atrial fibrillation

1. Genetic testing in patients with early-onset atrial fibrillation, via major commercial arrhythmia and cardiomyopathy gene panels, were able to detect a disease-associated variant...

22q11.22 status is a predictor of the degree of negative outcomes of IKZF1 alteration...

1. 22q11.22 deletion alone was not associated with poor outcomes, but in combination with IKZF1 alteration predicted poor outcomes in pediatric B-cell acute lymphoblastic...

Clinicopathological heterogeneity in triple-negative breast cancers associated with variable prognosis and therapeutic outcomes

1. Heterogeneity in histological profile linked to improved overall survival, chemotherapy response, and clinical course despite triple-negative receptor status in three rare breast cancer...

Increased mortality among parents of children with major congenital anomalies

1. Mothers and fathers of children with major congenital abnormalities were found to experience an overall increased risk of mortality as compared with parents...

Evolocumab successfully reduced LDL levels in pediatric patients

1. Evolocumab successfully reduced low density lipoprotein (LDL) cholesterol levels in pediatric patients with heterozygous familial hypercholesterolemia. 2. Non- high density lipoprotein and apolipoprotein B...

Patisiran therapy reduces ventricular myocardial strain in hereditary transthyretin amyloidosis

1. Use of patisiran, an RNA interference therapy, in patients with hereditary transthyretin (hATTR) cardiac amyloidosis was linked to reduced left ventricular global longitudinal...

CRISPR-mediated gene activation rescues obesity caused by haploinsufficiency [PreClinical]

1. Haploinsufficiency of Sim1 or Mc4r in the hypothalamus result in an obesity phenotype in mice and humans. 2. In mice, CRISPR-mediated activation (CRISPRa) of...

Exome sequencing yields genetic diagnoses among patients with chronic kidney disease

1. Proband exome sequencing revealed that approximately 10% of patients in this study cohort had a detectable genetic variant of chronic kidney disease. 2. A majority...

Lanadelumab may be an effective prophylactic treatment for hereditary angioedema

1. In this randomized controlled trial, prophylactic lanadelumab reduced attack frequency and severity in patients with hereditary angioedema compared to placebo. 2. The most common...

BRCA1 mutation linked to lower AMH levels

1. Women with a BRCA1 mutation had lower anti-Müllerian hormone (AMH) levels than non-carriers. 2. There was no association between BRCA2 mutation status and AMH...

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