Genetics

Reports of high-impact genetics studies by medical professionals

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...

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 and 1p/19q codeletion; these...

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 T cell function.2. While...

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 DNA Analysis for Noninvasive Examination...

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 21.5 years of follow-up....

Adherence to a Mediterranean diet linked to longer telomere length

1. Women who more closely followed a Mediterranean-style diet had longer telomeres.2. Individual components of the Mediterranean diet were not associated with telomere length,...

Key mutations may protect against coronary artery disease

1. Genetic mutations that led to the inactivation NPC1L1, a lipid transporter protein, were linked to lower low-density lipoprotein (LDL) and total cholesterol levels....
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