Mutation News and Research

RSS

Individual genetic defects lead to heart failure in different ways, consortium reports

Cardiomyopathy is not a uniform disease. Rather, individual genetic defects lead to heart failure in different ways, an international consortium reports in Science.

4 Aug 2022

Researchers uncover genomic characteristics of breast cancers associated with PTEN hamartoma tumor syndrome

Cleveland Clinic researchers have uncovered genomic characteristics of breast cancers associated with PTEN hamartoma tumor syndrome (PHTS) that differentiate them from sporadic breast cancers.

4 Aug 2022

Mitochondrial DNA mutations are associated with an increased risk of atherosclerosis

Mitochondria are organelles found within most cells, best known for generating the chemical energy required to power cellular functions.

4 Aug 2022

Large-scale serological survey of SARS-CoV-2 in multiple rodent species across Europe

Scientists conducted SARS-CoV-2 sero-surveillance in wild rodents across Europe.

4 Aug 2022

UCI researchers develop novel test that detects specific SARS-CoV-2 variants with 100% accuracy

University of California, Irvine researchers have developed a COVID-19 test that detects and identifies specific SARS-CoV-2 variants with 100% accuracy.

3 Aug 2022

The antibody evasion properties of the SARS-CoV-2 Omicron subvariant BA.2.75

Researchers evaluated all the features, especially the antigenic properties and transmission potential of SARS-CoV-2 Omicron sub-variant BA.2.75.

3 Aug 2022

New and efficient method Monkeypox virus sequencing

In a recent study posted to the medRxiv* preprint server, Spanish researchers described a new enrichment method for metagenomic sequencing of the monkeypox virus (MPXV).

2 Aug 2022

Study identifies pivotal role of FIBCD1 gene in neurodevelopmental disorders

A multidisciplinary study led by Vanja Nagy (LBI-RUD/CeMM/Medical University of Vienna) and Josef Penninger (UBC/IMBA) characterized a novel gene, known as FIBCD1, to be likely causative of a new and rare neurodevelopmental disorder.

2 Aug 2022

IRB Barcelona researchers discover genetic drivers of clonal hematopoiesis

Clonal hematopoiesis is a biological process in which a blood stem cell (the population that gives rise to a variety of blood cell types) acquires an advantageous mutation and outgrows neighboring cells.

2 Aug 2022

ADAR1 mutation sets off biochemical pathways that produce an organ-damaging autoimmune response

A new study shows how mutation of the ADAR1 gene sets off biochemical pathways that produce an autoimmune response that harms the developing brain and other areas of the body.

2 Aug 2022

Researchers characterize a novel gene likely to cause neurological disorders in humans

A multidisciplinary study led by Vanja Nagy (LBI-RUD/CeMM/MedUni Vienna) and Josef Penninger (UBC/IMBA) characterized a novel gene, known as FIBCD1, to be likely causative of a new and rare neurodevelopmental disorder. Using data from two young patients with neurological symptoms, the researchers from both groups found evidence of a novel function for the FIBCD1 gene in the brain, and a potentially pivotal role in diseases such as autism, ADHD, schizophrenia, and neurodegenerative disorders including Alzheimer's. The study makes an important contribution to the understanding of the extracellular matrix in the brain and its associated neurological diseases.

2 Aug 2022

What are the hidden sources of SARS-CoV-2 evolution?

A recent article published in Transplant Infectious Disease examined case reports on SARS-CoV-2 evolution in immunosuppressed cohorts.

2 Aug 2022

Gene mutation responsible for hereditary hemochromatosis may be a risk factor for movement disorders

A disorder called hereditary hemochromatosis, caused by a gene mutation, results in the body absorbing too much iron, leading to tissue damage and conditions like liver disease, heart problems and diabetes.

1 Aug 2022

How and when do de novo SARS-CoV-2 spike mutations emerge?

Researchers evaluated viral mutations in two patients with persistent SARS-CoV-2 infection.

1 Aug 2022

Innovative microscopy method reveals how neurons struggle to reach their destination in Rett syndrome models

Using an innovative microscopy method, scientists at The Picower Institute for Learning and Memory at MIT observed how newborn neurons struggle to reach their proper places in advanced human brain tissue models of Rett syndrome, producing new insight into how developmental deficits observed in the brains of patients with the devastating disorder may emerge.

29 Jul 2022

The global mutation landscape of the SARS-CoV-2 non-structural protein 1

Researchers describe the evolution of the SARS-CoV-2 non-structural protein 1 (NSP1).

28 Jul 2022

Predicting viral antibody escape using pre-pandemic data

A new study reports early prediction of SARS-CoV-2 immune evasion using EVEscape.

28 Jul 2022

New imaging technique reveals subtle details about pathology in a rare eye disease

Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation.

28 Jul 2022

Genetic variations in one serotonin receptor could be the reason behind psychedelic treatment disparity

When all else fails, some patients trying to overcome alcoholism, severe depression or anxiety, and even cluster headaches, turn to psychedelic drugs, which clinical research has shown can help treat individuals with these conditions, sometimes with dramatically positive results.

27 Jul 2022

Efficacy of monoclonal antibodies against Omicron BA.1, BA.2, and BA.5

Researchers evaluate the neutralizing potency of therapeutic monoclonal antibodies against three sub-lineages of the SARS-CoV-2 Omicron variant.

27 Jul 2022

Mutation News and Research

Individual genetic defects lead to heart failure in different ways, consortium reports

Researchers uncover genomic characteristics of breast cancers associated with PTEN hamartoma tumor syndrome

Mitochondrial DNA mutations are associated with an increased risk of atherosclerosis

Large-scale serological survey of SARS-CoV-2 in multiple rodent species across Europe

UCI researchers develop novel test that detects specific SARS-CoV-2 variants with 100% accuracy

The antibody evasion properties of the SARS-CoV-2 Omicron subvariant BA.2.75

New and efficient method Monkeypox virus sequencing

Study identifies pivotal role of FIBCD1 gene in neurodevelopmental disorders

IRB Barcelona researchers discover genetic drivers of clonal hematopoiesis

ADAR1 mutation sets off biochemical pathways that produce an organ-damaging autoimmune response

Researchers characterize a novel gene likely to cause neurological disorders in humans

What are the hidden sources of SARS-CoV-2 evolution?

Gene mutation responsible for hereditary hemochromatosis may be a risk factor for movement disorders

How and when do de novo SARS-CoV-2 spike mutations emerge?

Innovative microscopy method reveals how neurons struggle to reach their destination in Rett syndrome models

The global mutation landscape of the SARS-CoV-2 non-structural protein 1

Predicting viral antibody escape using pre-pandemic data

New imaging technique reveals subtle details about pathology in a rare eye disease

Genetic variations in one serotonin receptor could be the reason behind psychedelic treatment disparity

Efficacy of monoclonal antibodies against Omicron BA.1, BA.2, and BA.5

Industry Focus eBook - Analytical Chemistry (2nd Edition) eBook

Managing vibration in IVF laboratories

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

Latest News