Genomics

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Groundbreaking method profiles gene activity in the living brain

A groundbreaking method to profile gene activity in the living human brain has been developed by researchers at FutureNeuro, the Research Ireland Centre for Translational Brain Science and RCSI University of Medicine and Health Sciences, in collaboration with international partners.

25 Nov 2024

New study challenges the traditional view of gene switches

Some sequences in the genome cause genes to be switched on or off. Until now, each of these gene switches, or so-called enhancers, was thought to have its own place on the DNA.

22 Nov 2024

Barcelona launches world’s first joint program on evolutionary medical genomics

Three research institutions in Barcelona have teamed up to launch the world's first Joint Program on Evolutionary Medical Genomics.

22 Nov 2024

Gene variant linked to early miscarriages identified

In what could be a major advance in understanding the genetic causes underlying human infertility, scientists led by researchers from Rutgers University-New Brunswick have identified a gene variant directly tied to early miscarriages in women.

22 Nov 2024

Study sheds light on how cells repair damaged DNA

New research from the Kind Group at the Hubrecht Institute sheds light on how cells repair damaged DNA. For the first time, the team has mapped the activity of repair proteins in individual human cells.

22 Nov 2024

First 'blueprint' of human skeletal development offers new insights into bone formation

The first 'blueprint' of human skeletal development reveals how the skeleton forms, shedding light on the process of arthritis, and highlighting cells involved in conditions that affect skull and bone growth.

21 Nov 2024

Rare genetic mutations in healthy women may be key to breast cancer origins

Researchers at the University of British Columbia (UBC), BC Cancer, Harvard Medical School and Memorial Sloan Kettering Cancer Center (MSK) have pinpointed what could be the early genetic origins of breast cancer - cancer-like mutations appearing in the cells of healthy women.

21 Nov 2024

Study reveals new genetic explanation for dilated cardiomyopathy

A potentially life-changing heart condition, dilated cardiomyopathy, can be caused by the cumulative influence of hundreds or thousands of genes and not just by a single "aberrant" genetic variant, as was previously thought, finds a new study led by researchers at UCL (University College London), Imperial College London and the MRC Laboratory of Medical Sciences.

21 Nov 2024

Decoding the genetic roots of stroke and heart attack

In a new study published in the European Heart Journal, researchers at Karolinska Institutet show that genetic traits influence the cellular composition of atherosclerotic plaques, which over time will affect the risk of such lesions to cause a stroke or heart attack. The new knowledge can be used to improve the risk assessment and treatment of patients with atherosclerosis in the future.

20 Nov 2024

Researchers uncover hidden roles of accessory genes in SARS-CoV-2

Viruses are lean, mean, infection machines. Their genomes are tiny, usually limited to a handful of absolutely essential genes, and they shed extra genomic deadweight extremely fast.

20 Nov 2024

Study identifies DNA collisions driving genetic changes in cancer

Cancer researchers at the University of Chicago and the University of California, San Francisco (UCSF) have discovered that mutations in certain genes can lead to the accumulation of DNA errors, resulting in a specific type of genetic change known as large tandem duplications (TDs) that can arise from the collision of two critical cellular processes: transcription and DNA replication.

20 Nov 2024

Barcoding small extracellular vesicles with new CRISPR-based system

Cell-to-cell communication through nanosized particles, working as messengers and carriers, can now be analyzed in a whole new way, thanks to a new method involving CRISPR gene-editing technology.

20 Nov 2024

Study reveals variability in polygenic risk scores for predicting heart disease

Polygenic risk scores (PRSs) are a cutting-edge tool in genetics, combining information from genetic markers across the genome to estimate a person's risk of developing certain diseases, such as coronary artery disease (CAD).

19 Nov 2024

Stilla Technologies with Source BioScience brings advanced genomics solutions to the UK market

Stilla Technologies, a global leader in digital PCR (dPCR) solutions, has announced a strategic partnership with Source BioScience, a leading UK-based genomics service provider.

From Stilla Technologies 19 Nov 2024

Innovative platform helps explore genetic links to 99 diseases

A new study introduces the Proteome-Wide Association Study Hub, an innovative and powerful tool designed to explore gene-disease connections across ninety-nine common diseases.

18 Nov 2024

Genomic surveillance could revolutionize the fight against antimicrobial resistance

During the COVID-19 pandemic, genomic surveillance proved vital in helping understand the evolution and spread of the SARS-CoV-2 virus.

15 Nov 2024

Rare STAT6 gene variant provides protection against severe asthma

Scientists at deCODE genetics, a subsidiary of Amgen, and collaborators have published a study in Journal of Allergy and Clinical Immunology reporting a rare missense variant in STAT6 that protects against asthma.

15 Nov 2024

Evo model set to transform synthetic biology and disease diagnosis

A new study presents "Evo" – a machine learning model capable of decoding and designing DNA, RNA, and protein sequences, from molecular to genome scale, with unparalleled accuracy. Evo's ability to predict, generate, and engineer entire genomic sequences could change the way synthetic biology is done.

15 Nov 2024