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Evidence of link between ACE2 genotype and COVID-19 disease severity

A new study published on the preprint server medRxiv in June 2020 shows that variants in the ACE2 gene which encodes the enzyme receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes COVID-19 disease, are linked to the risk of severe disease.

24 Jun 2020

Effect of human genes on severity and infectivity of SARS-CoV-2

Now, a new paper published on the preprint server medRxiv* reports the results of an analysis of the association between the genetic variants in the patients and the clinical progression of the disease. The study included 332 patients hospitalized with COVID-19 in a single-center, with widely varying laboratory and clinical features. There were 25, 12, and 17 patients with asymptomatic, mild, and critical disease.

14 Jun 2020

Genetic studies analyze genome-wide set of genetic variants in different individuals

Genome-wide association studies (GWAS) analyze a genome-wide set of genetic variants in different individuals to see if any are associated with a trait or disease.

8 Jun 2020

Researchers treat TMC1-related deafness with gene therapy

When Wei Hsi (Ariel) Yeh was a young undergraduate student, one of her close friends went from normal hearing to complete deafness in the span of one month.

4 Jun 2020

A closer look at TMPRSS2: This could help treat COVID-19

The transmembrane protease serine-type 2 (TMPRSS2) protein plays a key role in COVID-19 infection since it primes the viral spike protein to allow viral entry into the target cell. A new study by researchers at Imperial College London and published on the preprint server bioRxiv in May 2020 describes the protein, which could be an attractive drug target to help manage COVID-19.

28 May 2020

Many different T cell receptors recognize SARS-CoV-2 antigenic sites

The global COVID-19 pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is spreading over the world. However, not much is known about how the adaptive immune response kicks in following the viral challenge. This knowledge is crucial to predicting the efficacy of a vaccine and estimating the chances of reinfection.

26 May 2020

AMP publishes evidence-based recommendations to standardize clinical genotyping tests for warfarin response

The Association for Molecular Pathology (AMP), the premier global, molecular diagnostic professional society, today published consensus, evidence-based recommendations to aid in the design, validation and interpretation of clinical genotyping tests for the prediction of warfarin response.

6 May 2020

ACE2 genetic variants may influence coronavirus disease progression

Researchers in British Columbia have identified a set of gene variants that are likely to influence disease progression from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection to COVID-19 disease.

15 Apr 2020

Plasma monitoring of EGFR mutations in NSCLC may help predict resistance to tyrosine kinase inhibitors

Oncotarget Volume 11, Issue 11 reported that at clinical progression, 64 EGFR T790M plasma positive patients were subjected to second line-treatment with osimertinib and strictly monitored during the first month of therapy.

22 Mar 2020

Exploiting careless cancer cells to develop new drugs

Could the ability of cancer cells to quickly alter their genome be used as a weapon against malignant tumors? Researchers at Uppsala University have succeeded in developing a substance that has demonstrated promising results in experiments on both animal models and human cancer cells.

11 Mar 2020

New way to chart human genome with CRISPR/nanopore sequencing technique

In search of new ways to sequence human genomes and read critical alterations in DNA, researchers at Johns Hopkins Medicine say they have successfully used the gene cutting tool CRISPR to make cuts in DNA around lengthy tumor genes, which can be used to collect sequence information.

24 Feb 2020

Autophagy genes work against tumors in some ovarian cancers

Shedding light on a decades-old controversy, scientists at the Medical University of South Carolina and University of California at San Diego published findings in PLOS Genetics this month showing that autophagy or "self-eating" genes work against tumors in certain types of ovarian cancer.

13 Feb 2020

Study finds unexpected response to estrogen at the single cell level

A team led by researchers at Baylor College of Medicine found that not only do individual mammalian cells in a population fail to respond synchronously to estrogen stimulation, neither do individual gene copies, known as alleles.

28 Jan 2020

OGT launches high-quality NGS panel for research into Chronic Lymphocytic Leukemia

Oxford Gene Technology, A Sysmex Group Company, is excited to announce the launch of its SureSeq CLL + CNV Panel — the company’s latest high-quality, next-generation sequencing offering for research into Chronic Lymphocytic Leukaemia.

From Oxford Gene Technology 16 Jan 2020

Common genetic defect in prostate cancer associated with worse prognosis

Like security screening to make sure nothing harmful makes its way into a crowded area, cells in the human body use checkpoints to control their growth and prevent harmful mutations from making their way into new cell populations and causing trouble.

9 Jan 2020

New insights into the most perplexing medical mysteries associated with schizophrenia

Four unsolved mysteries around schizophrenia have long plagued the medical community, but a new hypothesis identifying a common link between them and an almost forgotten epidemic of a disease called pellagra could have profound implications for our understanding of psychosis in poorer nations.

12 Dec 2019

Rutgers researchers identify small mutations for AML and MDS through deep DNA sequencing

Deep DNA sequencing analysis conducted by Rutgers Cancer Institute of New Jersey investigators examining genomic differences within tumors for prediction of disease relapse in certain hematologic malignancies has identified small mutations.

9 Dec 2019

Dynamics of crucial immune system proteins revealed

Of the many marvels of the human immune system, the processing of antigens by the class I proteins of the major histocompatability complex (MHC-I) is among the most mind-boggling. Exactly how these proteins carry out their crucial functions has not been well understood.

3 Dec 2019

Non-coding enhancer DNA may be key for identifying genetic risk in neurological conditions

One might think that the primary cause of most genetically linked diseases comes from mutations in coding DNA -- alterations in coding regions of the genome that can lead directly to changes in the expression of particular proteins important for a healthy body.

14 Nov 2019

Three-drug combination improves lung function, reduces symptoms in CF patients

A phase three clinical trial that UT Southwestern participated in determined that a three-drug combination improved lung function and reduced symptoms in cystic fibrosis patients who have a single copy of the most common genetic mutation for the disease.

31 Oct 2019