Mutation News and Research

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Concerti algorithm identifies intra-patient heteroplasmies in SARS-CoV-2 patients

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus that emerged in Wuhan, China, in late 2019 has caused the ongoing coronavirus disease 2019 (COVID-19) pandemic, which has affected more than 39.8 million lives globally and claimed over 1.11 million deaths to date.

18 Oct 2020

New tool can provide non-invasive decision support for NSCLC treatment

Personalized treatment options for patients with lung cancer have come a long way in the past two decades.

16 Oct 2020

Scientists reveal host pathways hijacked by three lethal coronaviruses

Seeking to inform development of drugs effective against multiple pathogenic human coronaviruses, David E. Gordon and colleagues compared host interactions of MERS-CoV, SARS-CoV-1 and SARS-CoV-2, uncovering host pathways commonly hijacked by all three.

16 Oct 2020

Sanofi Translate Bio MRT5500 COVID-19 vaccine shows promise in preclinical trials

The COVID-19 pandemic is threatening to come back in greater intensity during the winter and fall. Faced with this threat, vaccine development efforts are entering a phase of renewed focus, attempting to identify antigens capable of eliciting protective levels of neutralizing antibodies. A new study published on the preprint server bioRxiv* in October 2020 reports on a novel mRNA vaccine candidate's performance in two animal models.

16 Oct 2020

UTHSC professor receives $2.2 million for research into arterial stiffness and hypertension

In humans, large arteries lose elasticity and thicken with age and other pathological conditions, leading to arteriosclerosis and high blood pressure.

15 Oct 2020

Moffitt study uncovers how specific molecules promote cancer progression

The development of cancer is a highly complicated process, involving multiple genes and signaling pathways that become upregulated or downregulated throughout different stages of tumor growth and spread.

15 Oct 2020

Genomic analysis of neuroblastoma sheds light on childhood solid tumors

Researchers have used insight from a comprehensive genomic analysis of neuroblastoma to learn about the process driving one of the most common childhood solid tumors. The findings revealed possible approaches for developing precision medicines to improve patient outcomes. St. Jude Children's Research Hospital scientists led the study, which appears today in the journal Nature Communications.

15 Oct 2020

Researchers develop breakthrough blood test for brain tumors

Genetic mutations that promote the growth of the most common type of adult brain tumors can be accurately detected and monitored in blood samples using an enhanced form of liquid biopsy developed by researchers at Massachusetts General Hospital.

14 Oct 2020

Anti-inflammatory drugs may hold the potential to alleviate Parkinson's disease, study suggests

Around 15% of Parkinson's disease cases are related to a known genetic background, out of which mutations in the Parkin and PINK1 genes are among the most frequent ones.

14 Oct 2020

Study offers renewed hope for children suffering from myofibrillar myopathies

Stephen Greenspan and Laura Zah were devastated when they learned their son Alexander had a rare genetic mutation, which causes a deadly neuromuscular disease with no known treatment or cure.

14 Oct 2020

D614G mutation in SARS-CoV-2 increases viral fitness and infectivity

Researchers from the Duke Human Vaccine Institute and Duke University, Durham NC, USA, recently analyzed the D614G mutation in SARS-CoV-2 in the context of a soluble S ectodomain construct. Their study has been published in the preprint server bioRxiv.

14 Oct 2020

How SARS-CoV-2's spike protein highjacks the host cell trafficking machinery

Researchers at The Medical Research Council Laboratory of Molecular Biology have conducted a study showing how the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike protein interacts with host cell factors in ways that promote the formation of syncytia.

13 Oct 2020

Study provides a new depth of resolution to understand single gene disorders

Traditionally, geneticists divide disorders into "simple," where a single gene mutation causes disease, or complex, where mutations in many genes contribute modest amounts. A new study suggests that the truth is somewhere in between.

12 Oct 2020

Study shows how mutations in VAV1 gene may promote T-cell tumors in experimental mice

Life is an exquisite orchestration of growth and change, with checks and balances that fine-tune complex entwined interactions, both intrinsic and external.

12 Oct 2020

Vaccines likely to be effective against SARS-CoV-2 D614G mutation

The emergence of the new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mutation D614G has raised many questions, including whether it will cause the virus to become resistant to the vaccines produced against earlier versions of the virus. A new study published in the journal npj Vaccines in October 2020 shows that this may be an unfounded fear.

11 Oct 2020

CWRU and UH secure $4 million to establish research center focused on lung cancer in East Africa

Researchers with the Case Western Reserve University School of Medicine and University Hospitals Cleveland Medical Center have secured $4 million in funding from the National Institutes of Health (NIH)/National Cancer Institute to establish an HIV-associated Malignancy Research Center (HAMRC) focused on lung cancer in East Africa.

9 Oct 2020

Breakthrough genetic discovery into the cause of severe neurological conditions

Researchers have made a breakthrough genetic discovery into the cause of a spectrum of severe neurological conditions.

8 Oct 2020

Using mRNA therapies or CRISPR gene editing to treat cystic fibrosis

The potential for treating cystic fibrosis (CF) using mRNA therapies or CRISPR gene editing is possible regardless of the causative mutation. CF clinical trials showing that a genotype-agnostic gene therapy for CF is possible are reviewed in the peer-reviewed journal Human Gene Therapy.

8 Oct 2020

Study: New viral mutations would not impact the efficacy of Covid-19 vaccine candidates

Vaccines currently being developed for Covid-19 should not be affected by recent mutations in the virus, according to a new study involving a University of York virologist.

8 Oct 2020

NTHU research could have significant impact on the treatment of dementia

One of the causes of neurodegenerative diseases such as Parkinson's and Alzheimer's is the calcification of the basal nucleus of the brain, which blocks the membrane protein channels on the surface of brain cells, preventing the transmission of signal molecules and nutrients to the cells.

8 Oct 2020