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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...
Genetics
Reports of high-impact genetics studies by medical professionals
22q11.22 status is a predictor of the degree of negative outcomes of IKZF1 alteration in pediatric B-cell acute lymphoblastic leukemia
1. 22q11.22 deletion alone was not associated with poor outcomes, but in combination with IKZF1 alteration predicted poor outcomes in...
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...
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...
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...
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...
![CRISPR-mediated gene activation rescues obesity caused by haploinsufficiency [PreClinical]](https://s25qthea.wpenginepowered.com/wp-content/uploads/2019/03/CRISPR-350x250.jpg)
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...
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...
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...
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...
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