Single Nucleotide Polymorphisms News and Research

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Researchers outline characteristics of Omicron variant immune escape and viral entry into host cells

A new study found that the Omicron variant contains a number of mutations that decrease neutralizing antibody activity and immune escape.

6 Jan 2022

Are our bowel habits written in our DNA?

In this interview, News-Medical talks to Dr. Mauro D’Amato about how there could be clues about the regularity of bowel movements within our genes.

24 Dec 2021

SARS-CoV-2 infection leads to distinct changes in proteomic and peptidomic profiles and posttranslational modifications

A new study indicates that as a result of SARS-CoV-2 infection comprehensive changes in protein processing and regulation occur.

20 Dec 2021

Investigating SARS-CoV-2 genomics-informed outbreaks using new bioinformatics tools

Researchers have created a tool designed to make as much use of the overwhelming amount of SARS-CoV-2 data as possible.

17 Dec 2021

Phenome study reveals alternate associations with SARS-CoV-2 risk loci

Researchers from the Duke Molecular Physiology Institute have been investigating genetic associations with more severe disease and examining the associations that certain genetic features have with other diseases.

13 Dec 2021

Cas12a-based bio-sensor for detecting SARS-CoV-2 mutations

Scientists develop an improved biosensor with Cas12a-based CRISPR on-site rapid detection system and discuss its ability to detect SARS-CoV-2 VOCs.

7 Dec 2021

New therapeutic targets for the treatment and prevention of hypertension, cardiovascular diseases

Cardiovascular diseases are the leading cause of death worldwide. Although the development of these disorders is most commonly associated with lifestyle factors like obesity, increasing evidence suggests that events much earlier in one's life can also play a role.

6 Dec 2021

Study uncovers important genetic predispositions for acute myeloid leukemia

The National Center for Tumor Diseases Dresden is a joint institution of the German Cancer Research Center, the University Hospital Carl Gustav Carus Dresden, Carl Gustav Carus Faculty of Medicine at TU Dresden and the Helmholtz-Zentrum Dresden-Rossendorf.

24 Nov 2021

New study highlights the important role of rare genomic differences in OCD risk

Both rare and commonly observed differences in the DNA letters strung along a person's chromosomes can explain about a third of the risk for being diagnosed with obsessive-compulsive disorder (OCD), according to a new study led by scientists at the Icahn School of Medicine at Mount Sinai.

18 Nov 2021

Study looks at how lupus genetics intersects with COVID-19

The study “Interferon pathway lupus risk alleles modulate risk of death from acute COVID-19” was recently published on the preprint medRxiv* server.

8 Nov 2021

Highly-sensitive PCR-based method to detect SARS-CoV-2 variants

A team of UK-based scientists has recently developed an allele-specific probe polymerase chain reaction method that can accurately detect different variants/lineages of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in respiratory samples. Furthermore, the method can detect viral variants even in samples with low viral RNA or degraded viral RNA. The study is currently available on the medRxiv* preprint server.

7 Nov 2021

Highly-sensitive PCR-based method to detect SARS-CoV-2 variants

A team of scientists has recently developed an allele-specific probe polymerase chain reaction method that can accurately detect different variants/lineages of SARS-CoV-2 in respiratory samples.

4 Nov 2021

CAST brings advancements in genomic medicine to admixed individuals

One way to make health care more personalized is to use a person's DNA sequence — or genome — to predict their risk of disease. But as the field of precision medicine grows, so have concerns that we may be leaving a large fraction of Americans out.

12 Oct 2021

Elevated allostatic load may impact treatment completion and breast cancer survival outcomes

Elevated allostatic load was associated with a lower likelihood of completing chemotherapy and a lower overall survival rate in patients with lymph node-positive or high-risk lymph node-negative HER2-negative breast cancer, according to results presented at the 14th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved, held online October 6-8, 2021.

6 Oct 2021

Computational study identifies key areas of the SARS-CoV-2 genome prone to mutation

By retrieving 329,942 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) records from the GISAID database, researchers from a software company in Cambridge described genetic variability of SARS-CoV-2 in order to inform further studies. Their findings are currently available on the bioRxiv* preprint server while it undergoes peer review.

9 Aug 2021

Flagging potential molecular predictors of response to biological therapies in ulcerative colitis

Several individuals suffering from bowel diseases like ulcerative colitis fail to respond to conventionally used biologic therapies.

3 Aug 2021

LIM domain only 1 gene contributes to the tumorigenesis of multiple cancers

Humans have been plagued by a myriad of deadly cancers since ages. Parallelly, they have also been attempting different permutations and combinations of treatments to cure the disease. Part of these attempts involving biomolecular targets have come to the fore in recent years.

10 Jun 2021

The potential therapeutic value of CDK6 inhibitors in critical COVID-19

While drug repurposing has been explored in the context of the current coronavirus disease 2019 (COVID-19) pandemic, the success of this strategy has been limited so far. A new study, released as a preprint on the medRxiv* server, describes a new method of identifying a promising hit among drugs already in use.

24 May 2021

First cases of B.1.1.7 variant with E484K mutation in Pennsylvania

The E484K mutation has also been found on the B.1.351 and P.1 variant, contributing to their status as variants of concern. In February 2021, Public Health England published a report of 11 B.1.1.7 genomes that also had the E484K spike mutation. Currently, there are 247 isolates of B.1.1.7 + E484K reported globally, and new research finds the first reports of it in southeastern Pennsylvania.

27 Apr 2021

What do we know about the origin and evolution of SARS-CoV-2?

A new study examines the origin and continuing evolution of SARS-CoV-2 in the human and animal co-hosts in an attempt to help prepare for future destructive outbreaks.

21 Apr 2021