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Gitelman syndrome more common in Japanese population than previously reported

Clinical Fellow KONDO Atsushi and Professor NOZU Kandai et al. of Kobe University's Graduate School of Medicine have estimated the prevalence of Gitelman syndrome across different ethnicities using a genome database.

30 Aug 2021

How early interferon curbs SARS-CoV-2 infection

A new study available in the Journal of Experimental Medicine focuses on the importance of interferon in SARS-CoV-2 infection.

30 Aug 2021

Can SARS-CoV-2 be transmitted in the food cold chain?

A new study reports that the risk of transmitting SARS-CoV-2 through such fomites is very low.

30 Aug 2021

Polygenic risk scores could be used as a tool to help diagnose epilepsy

Although epilepsy is a relatively common condition, affecting approximately 1% of individuals worldwide, it is often difficult to diagnose in clinical practice, and it is estimated that up to a quarter of all cases may be misdiagnosed initially.

30 Aug 2021

Could genetic variants in host cell receptors (ACE2) explain COVID-19 susceptibility among certain ethnic groups?

Led by Ioannis Karakikes of Stanford University, a new study suggests some hospitalized patients with COVID-19 contain ACE2 genetic variants that increase ACE2 expression. Some variants that altered ACE2 protein expression and binding affinity were more prevalent in people with European backgrounds.

30 Aug 2021

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

The underlying cause of sudden cardiac death (SCD) in a young person is often difficult to identify. A genetic analysis could provide more information in many cases, but blood samples are not collected routinely at the time of death, and DNA extracted from the tissues collected at autopsy is damaged because of the way they are fixed in formalin and paraffin-embedded.

30 Aug 2021

New study maps the evolution of the SARS-CoV-2 delta and delta plus variants

The SARS-CoV-2 delta variant bears the D164G mutation, which is known to enhance viral fitness. However, a number of additional mutations are known to be common to the delta and delta plus lineages, at least 25 as identified in a study recently published in the Journal of Autoimmunity, mainly located on the spike protein of the virus.

30 Aug 2021

New study analyzes altered gene expression in severe COVID-19

In a paper recently uploaded to the bioRxiv* preprint server, the genetic link between COVID-19 severity and gene expression is investigated, hoping to allow early identification of otherwise healthy individuals that will likely require hospitalization if infected.

30 Aug 2021

Antisense oligonucleotides engineered to inhibit SARS-CoV-2

In a paper recently uploaded to the bioRxiv* preprint server, structure-based ASOs are developed against SARS-CoV-2, intended to bond with RNA in its structured in situ form, rather than the more rarely encountered linear section, achieving greater affinity and specificity than linear ASOs, and demonstrating inhibition of virus replication in human cells.

30 Aug 2021

Polymeric and lipid nanoparticles in self-amplifying RNA vaccines result in higher protein expression and immunogenicity

Self-amplifying RNA (saRNA) is an advanced platform for nucleic acid vaccine development. The backbone is typically derived from an alphaviral genome and encodes a gene of interest (GOI) and a viral replicase that can amplify the genomic and subgenomic RNA.

30 Aug 2021

Research analyzes the role of RNA tags in Alzheimer’s disease

Understanding the role of tau protein in Alzheimer's disease (AD) has led to new ways to diagnose it as well as the creation of medicines now in clinical trials to treat it.

28 Aug 2021

Researchers measure the number of pathogens in backyard and commercial composts

Compost - organic material that is added to soil to help plants grow - is widely used by gardeners because it improves soil health and reduces the amount of organic waste in landfills. Although several studies have looked at commercial composts, very few have investigated backyard compost samples. In a new study, researchers have measured the number of pathogens in both types of compost.

28 Aug 2021

Study discourages use of non-standard therapies for infantile spasms

Children with infantile spasms, a rare form of epileptic seizures, should be treated with one of three recommended therapies and the use of non-standard therapies should be strongly discouraged, according to a study of their effectiveness by a Weill Cornell Medicine and NewYork-Presbyterian investigator and collaborating colleagues in the Pediatric Epilepsy Research Consortium. Early treatment with an effective therapy is important for improving neurodevelopmental outcomes and, for some children, can result in permanent remission of epilepsy.

28 Aug 2021

Rice lab receives NIH grant to unravel DNA’s secrets

The poor bacteriophages in Yang Gao's lab are about to have a lot of bad days.

28 Aug 2021

Northwestern researchers continue investigation on all aspects of COVID-19 pandemic

Northwestern Medicine scientists continue to investigate all aspects of the COVID-19 pandemic: from molecular mechanisms of infection, to child hospitalization and single-dose vaccine response.

28 Aug 2021

Recognizing viral genomes in quick, ‘CRISP’ ways

Researchers from China recently reviewed the latest advancements, applications, and prospects of virus detection using CRISPR-Cas systems.

27 Aug 2021

Large analysis identifies 579 genetic locations linked to anti-social behavior and addiction

An analysis of data from 1.5 million people has identified 579 locations in the genome associated with a predisposition to different behaviors and disorders related to self-regulation, including addiction and child behavioral problems.

27 Aug 2021

Study finds potential link between eating saturated fat from meat and heart disease risk

A study in more than 100,000 individuals has found a potential link between eating saturated fat from meat and developing heart disease.

26 Aug 2021

Study identifies 579 genomic regions associated with predisposition to self-regulating behaviors

Researchers have identified 579 locations in the human genome associated with a predisposition to self-regulation-related behaviors, including addiction and child behavioral problems. With data from 1.5 million people of European descent, the effort is considered to be one of the largest genome-wide association studies to date.

26 Aug 2021