Genomics

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Scientists create new test to identify people at risk of developing myeloid leukemias

Scientists have created a new test for identifying people at risk of developing acute myeloid leukaemia and related cancers, years before they do.

24 Aug 2023

Researchers find link between topography of the genome and presence of cancer mutations

Researchers at the University of California San Diego have uncovered a connection between the topography of the human genome and the presence of mutations in human cancer.

24 Aug 2023

Largest genetic study of heart failure finds new risk factors

In a new study co-led by investigators at the United States Department of Veterans Affairs and Brigham and Women's Hospital, a founding member of the Mass General Brigham healthcare system, a global team of scientists conducted one of the largest genetic association studies on heart failure to date.

24 Aug 2023

Disruption of FOXA2 expression in congenital hyperinsulinism: The role of chromosome 20p11.2 deletions

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24 Aug 2023

Waters launches XBridge Premier GTx BEH SEC columns for gene therapy applications

Waters Corporation introduced the first in a new line of size exclusion chromatography (SEC) columns aimed at improving the analysis while lowering the cost of gene therapies, specifically adeno-associated viral (AAV) vectors.

From Waters Corporation 24 Aug 2023

Naked mole rat gene boosts health and longevity in mice

In a groundbreaking endeavor, researchers at the University of Rochester have successfully transferred a longevity gene from naked mole rats to mice, resulting in improved health and an extension of the mouse's lifespan.

23 Aug 2023

New gene variant linked to Parkinson's disease found in people of African ancestry

A gene variant found almost exclusively in the genomes of people of African ancestry increases the risk of developing Parkinson's disease, according to an international study of nearly 198,000 participants with this genetic background.

23 Aug 2023

Swedish study changes national guidelines for genetic testing in breast cancer

BRCA1 and BRCA2 are well-known breast cancer genes associated with a significantly increased risk of hereditary breast and ovarian cancer. However, there are an additional eleven genes associated with elevated risk for these types of cancer.

23 Aug 2023

First complete sequences of multiple human Y chromosomes shed light on its evolution and biology

Highly challenging to sequence and long overlooked, the human Y chromosome's contributions to health and disease remain largely unknown.

23 Aug 2023

Long-read sequencing reveals new details of Bartter syndrome type 3

Bartter syndrome type 3 is the result of several structural variants in the genome. By using long-read sequencing, Janine Altmüller and her team from the Max Delbrück Center, the BIH and University Hospital Cologne mapped out the rare disease in unprecedented detail.

23 Aug 2023

Y chromosome fully mapped for the first time

What was once the final frontier of the human genome -; the Y chromosome -; has just been mapped out in its entirety.

23 Aug 2023

The value of whole-exome sequencing as a first-tier genetic test in the diagnosis of skin disorders

The genetic etiology by whole-exome sequencing (WES).

23 Aug 2023

AI-powered protein score predicts major atherosclerotic cardiovascular disease events

In a large retrospective analysis using measurements of thousands of plasma proteins in primary and secondary event populations, scientists from deCODE genetics a subsidiary of Amgen and collaborators from USA, Denmark and Iceland, reported today in The Journal of the American Medical Association (JAMA) how they employed AI to develop a protein score to predict major atherosclerotic cardiovascular disease events (ASCVD).

22 Aug 2023

New method could make single-cell RNA sequencing more accessible to patients

To improve therapies for cancer and other diseases, researchers strive to identify tissue-specific therapeutic targets and diagnostic biomarkers in every patient.

22 Aug 2023

Genetically diverse mouse models offer new insights into Alzheimer's disease

A new study by Indiana University School of Medicine researchers uses more genetically diverse mouse models to study the accumulation and spread of abnormal tau protein deposits in the brain-;a known sign of Alzheimer's disease and several other neurodegenerative diseases.

22 Aug 2023

A pilot cohort study on infants with new-onset epilepsy examines the clinical utility of rapid genome sequencing

The clinical impact of rapid genome sequencing of infants with new-onset epilepsy.

22 Aug 2023

Non-traditional gene fusions in luminal breast cancer: A new target for therapy

A new editorial paper was published in Oncotarget's Volume 14 on June 12, 2023, entitled, "Are cis-spliced fusion proteins pathological in more aggressive luminal breast cancer?"

21 Aug 2023

Genetic diversity important for plant survival in changing climate

In a recent study in PNAS, a team of researchers at the Max Planck Institute for Chemical Ecology in Jena, Germany, shows that a single mutation that has immediate effects on plant fitness is maintained over the long term in natural plant populations, despite theories predict the contrary.

21 Aug 2023

Study sheds light on how SARS-CoV-2 virus switches between replication and packaging

Immediately after the infection of a cell in the throat or lungs, the SARS-CoV-2 virus works very hard to replicate, using the human cell's metabolic pathways to produce its proteins and make sure that its genetic material (the RNA genome) is copied.

21 Aug 2023

Common genetic variants reduce clopidogrel effectiveness in British South Asians

Clopidogrel is a commonly prescribed medication used to prevent further heart attacks after an initial event. It needs to be activated in the body to be effective.

21 Aug 2023

Genomics

Scientists create new test to identify people at risk of developing myeloid leukemias

Researchers find link between topography of the genome and presence of cancer mutations

Largest genetic study of heart failure finds new risk factors

Disruption of FOXA2 expression in congenital hyperinsulinism: The role of chromosome 20p11.2 deletions

Waters launches XBridge Premier GTx BEH SEC columns for gene therapy applications

Naked mole rat gene boosts health and longevity in mice

New gene variant linked to Parkinson's disease found in people of African ancestry

Swedish study changes national guidelines for genetic testing in breast cancer

First complete sequences of multiple human Y chromosomes shed light on its evolution and biology

Long-read sequencing reveals new details of Bartter syndrome type 3

Y chromosome fully mapped for the first time

The value of whole-exome sequencing as a first-tier genetic test in the diagnosis of skin disorders

AI-powered protein score predicts major atherosclerotic cardiovascular disease events

New method could make single-cell RNA sequencing more accessible to patients

Genetically diverse mouse models offer new insights into Alzheimer's disease

A pilot cohort study on infants with new-onset epilepsy examines the clinical utility of rapid genome sequencing

Non-traditional gene fusions in luminal breast cancer: A new target for therapy

Genetic diversity important for plant survival in changing climate

Study sheds light on how SARS-CoV-2 virus switches between replication and packaging

Common genetic variants reduce clopidogrel effectiveness in British South Asians

Small solutions for big problems in drug discovery and delivery

Professor Nancy Ip: Pioneering New Paths in Neurodegenerative Therapy

Utilizing process Raman in optimizing cultivated meat production

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