Single Nucleotide Polymorphism News and Research

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Autoimmune condition biomarkers promote SARS-CoV-2 viral entry, study finds

Researchers have reported that the autoimmune PTPN2 risk variant rs1893217 promotes the expression of the SARS-CoV-2 receptor, ACE2, and thus promotes cellular entry, which is mediated by SARS-CoV-2 spike S protein.

16 Dec 2020

Clinical metagenomics, a faster approach to identify secondary infections in hospitalized COVID-19 patients

Scientists have demonstrated that clinical metagenomic detection of microbial communities can improve the management of infections in COVID-19 patients.

4 Dec 2020

Mayo clinic researchers develop a potential test for Machado-Joseph disease

Mayo Clinic researchers, along with national and global collaborators, have developed a potential test for Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3) ? a disease that has no cure.

22 Oct 2020

Scientists uncover a novel cellular mechanism for disposing of misfolded proteins

About 30 years ago, Dr. Richard Sifers set out on a journey to discover why people with a rare condition known as alpha1-antitrypsin deficiency present with high variation in the severity of liver disease.

21 Oct 2020

Common genetic variants may influence susceptibility to COVID-19

Researchers in the United States and Japan have conducted a study suggesting that a commonly occurring genetic variant influences susceptibility to infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the agent that causes coronavirus disease 2019 (COVID-19).

23 Sep 2020

Researchers shed light on Boston's SARS-CoV-2 superspreading event

Researchers in the United States have shown that failure to prevent the importation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) into Massachusetts led to superspreading that drastically altered the course of the epidemic and amplified the outbreak in this major urban area.

26 Aug 2020

Gene variants help explain link between skin condition and food allergies

Two common variants in the KIF3A gene increase the risk of young children having a dysfunctional skin barrier and developing the skin condition atopic dermatitis.

14 Aug 2020

Study provides genetic explanation behind the sex bias observed in certain diseases

Some diseases exhibit a clear sex bias, occurring more often, hitting harder or eliciting different symptoms in men or women.

12 May 2020

Researchers pinpoint genetic variation responsible for development of IBD

Researchers at Children's Hospital of Philadelphia have pinpointed a genetic variation responsible for driving the development of inflammatory bowel disease.

9 Apr 2020

Daily alcohol consumption ages brain

There are several studies looking at the effects of alcohol intake on the brain. Anew study adds to the existing knowledge. The large study with around 11,651 participants from United Kingdom shows that each gram of alcohol consumed could lead to around a week of aging of the brain.

2 Feb 2020

UVA scientists awarded $2.7 million NIH grant to study genetic variation linked with heart disease

The National Institutes of Health has awarded a $2.7 million grant to scientists from the University of Virginia to study a genetic variation associated with coronary heart disease.

29 Oct 2019

CFSRE and Verogen join forces to accelerate implementation of new forensic NGS technology

The Center for Forensic Science Research & Education (CFSRE) and Verogen have entered into a collaborative agreement to establish CFSRE as a leader in the field of forensic Next Generation Sequencing (NGS), also known as Massively Parallel DNA Sequencing (MPS).

From Verogen, Inc. 13 Sep 2019