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...
Genetics
Reports of high-impact genetics studies by medical professionals
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://www.2minutemedicine.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...
Integrative genomic analysis promising for diagnostic subtyping of lower-grade glioma
1. Analysis of genomewide data revealed three robust, nonoverlapping, and clinically significant tumor classes based on presence of IDH mutation...
Gene therapy may be helpful for Wiskott-Aldrich Syndrome
1. In this study of seven individuals with Wiskott-Aldrich Syndrome (WAS), gene therapy improved eczema, susceptibility to infection, autoimmunity, and...
2 Minute Medicine Rewind March 28 – April 5, 2015
In this section, we highlight the key high-impact studies, updates, and analyses published in medicine during the past week. Cell-free...
Amyloidogenic genetic variant not associated with increased mortality in blacks
1. Among black American carriers of the amyloidogenic V122I transthyretin variant, there was no increased mortality compared to noncarriers over...
